Limb-girdle muscular dystrophy in the United States

Steven A MOORE; Christopher J SHILLING; Aaron STENCE; Rita BARRESI; Nick KING; Wendy KING; Julaine FLORENCE; Kevin P CAMPBELL; Gerald M FENICHEL; Hansell H STEDMAN; John T KISSEL; Robert C GRIGGS; Steven WESTRA; Shree PANDYA; Katherine D MATHEWS; Alan PESTRONK; Carmen SERRANO; Daniel DARVISH; Jerry R MENDELL; Cheryl WALL; Matthew P WICKLUND; Catherine STOLLE; Charlotte A BROWN; Daniel E MICHELE; Federica PICCOLO; Thomas L WINDER

doi:10.1097/01.jnen.0000235854.77716.6c

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Limb-girdle muscular dystrophy in the United States

Journal article

Open access

Peer reviewed

Limb-girdle muscular dystrophy in the United States

Steven A MOORE, Christopher J SHILLING, Aaron STENCE, Rita BARRESI, Nick KING, Wendy KING, Julaine FLORENCE, Kevin P CAMPBELL, Gerald M FENICHEL, Hansell H STEDMAN, …

Journal of neuropathology and experimental neurology, Vol.65(10), pp.995-1003

2006

DOI: 10.1097/01.jnen.0000235854.77716.6c

PMID: 17021404

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Abstract

Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7 autosomal-dominant (LGMD1A to E) and 10 autosomal-recessive (LGMD2A to J). To determine the distribution of subtypes among patients in the United States, 6 medical centers evaluated patients with a referral diagnosis of LGMD. Muscle biopsies provided histopathology and immunodiagnostic testing, and their protein abnormalities along with clinical parameters directed mutation screening. The diagnosis in 23 patients was a disorder other than LGMD. Of the remaining 289 unrelated patients, 266 had muscle biopsies sufficient for complete microscopic evaluation; 121 also underwent Western blotting. From this combined evaluation, the distribution of immunophenotypes is 12% calpainopathy, 18% dysferlinopathy, 15% sarcoglycanopathy, 15% dystroglycanopathy, and 1.5% caveolinopathy. Genotypes distributed among 2 dominant and 7 recessive subtypes have been determined for 83 patients. This study of a large racially and ethnically diverse population of patients with LGMD indicates that establishing a putative subtype is possible more than half the time using available diagnostic testing. An efficient approach to genotypic diagnosis is muscle biopsy immunophenotyping followed by directed mutational analysis. The most common LGMDs in the United States are calpainopathies, dysferlinopathies, sarcoglycanopathies, and dystroglycanopathies.

Neurology

Biological and medical sciences

Medical sciences

Diseases of striated muscles. Neuromuscular diseases

Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Details

Title: Subtitle: Limb-girdle muscular dystrophy in the United States
Creators: Steven A MOORE - University of Iowa, Iowa City, Iowa, United States
Christopher J SHILLING - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Aaron STENCE - University of Iowa, Iowa City, Iowa, United States
Rita BARRESI - University of Iowa, Iowa City, Iowa, United States
Nick KING - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Wendy KING - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Julaine FLORENCE - Washington University, St. Louis, St. Louis, Missouri, United States
Kevin P CAMPBELL - University of Iowa, Iowa City, Iowa, United States
Gerald M FENICHEL - Vanderbilt University, Nashville, Tennessee, United States
Hansell H STEDMAN - University of Pennsylvania, Philadelphia, Pennsylvania, United States
John T KISSEL - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Robert C GRIGGS - Univer sity of Rochester, Rochester, New York, United States
Steven WESTRA - University of Iowa, Iowa City, Iowa, United States
Shree PANDYA - Univer sity of Rochester, Rochester, New York, United States
Katherine D MATHEWS - University of Iowa, Iowa City, Iowa, United States
Alan PESTRONK - Washington University, St. Louis, St. Louis, Missouri, United States
Carmen SERRANO - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Daniel DARVISH - HIBM Research Group, Encino, California, United States
Jerry R MENDELL - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Cheryl WALL - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Matthew P WICKLUND - The Ohio State University and Columbus Children's Hospital, Columbus, Ohio, United States
Catherine STOLLE - University of Pennsylvania, Philadelphia, Pennsylvania, United States
Charlotte A BROWN - University of Minnesota, Minneapolis, Minnesota, United States
Daniel E MICHELE - University of Iowa, Iowa City, Iowa, United States
Federica PICCOLO - University of Iowa, Iowa City, Iowa, United States
Thomas L WINDER - University of Iowa, Iowa City, Iowa, United States
Resource Type: Journal article
Publication Details: Journal of neuropathology and experimental neurology, Vol.65(10), pp.995-1003
DOI: 10.1097/01.jnen.0000235854.77716.6c
PMID: 17021404
NLM abbreviation: J Neuropathol Exp Neurol
ISSN: 0022-3069
eISSN: 1554-6578
Publisher: Lippincott Williams & Wilkins; Hagerstown, MD
Language: English
Date published: 2006
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984020651502771

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