Journal article
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
Neurology, Vol.94(9), pp.e884-e896
03/03/2020
DOI: 10.1212/WNL.0000000000009035
PMCID: PMC7238948
PMID: 32047073
Abstract
To evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A).
Patients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009 and 2018. Weighted CMTNS and CMTES modified category responses were developed with Rasch analysis of the standard scores. Change from baseline for CMTNS-R and CMTES-R was estimated with longitudinal regression models.
Baseline CMTNS-R and CMTES-R scores were available for 517 and 1,177 participants, respectively. Mean ± SD age of participants with available CMTES-R scores was 41 ± 18 (range 4-87) years, and 56% were female. Follow-up CMTES-R assessments at 1, 2, and 3 years were available for 377, 321, and 244 patients. A mixed regression model showed significant change in CMTES-R score at years 2 through 6 compared to baseline (mean change from baseline 0.59 points at 2 years,
= 0.0004, n = 321). Compared to the original CMTES, the CMTES-R revealed a 55% improvement in the standardized response mean (mean change/SD change) at 2 years (0.17 vs 0.11). Change in CMTES-R at 2 years was greatest in mildly to moderately affected patients (1.48-point mean change, 95% confidence interval 0.99-1.97,
< 0.0001, for baseline CMTES-R score 0-9).
The CMTES-R demonstrates change over time in patients with CMT1A and is more sensitive than the original CMTES. The CMTES-R was most sensitive to change in patients with mild to moderate baseline disease severity and failed to capture progression in patients with severe CMT1A.
NCT01193075.
Details
- Title: Subtitle
- A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
- Creators
- Vera Fridman - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PA. vera.fridman@ucdenver.eduStefan Sillau - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAGyula Acsadi - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAChelsea Bacon - University of Iowa, PsychiatryKimberly Dooley - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAJoshua Burns - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAJohn Day - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAShawna Feely - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PARichard S Finkel - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PATiffany Grider - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PALaurie Gutmann - University of Iowa, NeurologyDavid N Herrmann - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PACallyn A Kirk - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PASarrah A Knause - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAMatilde Laurá - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PARichard A Lewis - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAJun Li - University of MichiganThomas E Lloyd - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAIsabella Moroni - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAFrancesco Muntoni - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAEmanuela Pagliano - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAChiara Pisciotta - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAGiuseppe PiscosquitoSindhu Ramchandren - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAMario Saporta - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAReza Sadjadi - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PARosemary R Shy - University of Iowa, NeurologyCarly E Siskind - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PACharlotte J Sumner - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PADavid Walk - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAJanel Wilcox - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PASabrina W Yum - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAStephan Züchner - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PASteven S Scherer - University of Iowa, NeurologyDavide Pareyson - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAMary M Reilly - From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P., D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PAMichael E Shy - University of Iowa, NeurologyInherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.94(9), pp.e884-e896
- DOI
- 10.1212/WNL.0000000000009035
- PMID
- 32047073
- PMCID
- PMC7238948
- NLM abbreviation
- Neurology
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Grant note
- R01 NS066927 / NINDS NIH HHS KL2 TR002737 / NCATS NIH HHS U54 NS065712 / NINDS NIH HHS
- Language
- English
- Date published
- 03/03/2020
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984070872002771
Metrics
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