Journal article
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease
Neuromuscular disorders : NMD, Vol.25(10), pp.786-793
10/2015
DOI: 10.1016/j.nmd.2015.07.001
PMCID: PMC4920059
PMID: 26227883
Abstract
•We have identified the first CMT patient with a mutation in DRP2.•The mutation, Q269*, is predicted to result in an absence of the protein product.•Skin biopsy studies confirm this and recapitulate null animal model findings.
Details
- Title: Subtitle
- Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease
- Creators
- Kathryn M Brennan - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAYunhong Bai - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAChiara Pisciotta - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USASuola Wang - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAShawna M.E Feely - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAMark Hoegger - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USALaurie Gutmann - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USASteven A Moore - Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USAMichael Gonzalez - Department of Human Genetics and Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USADiane L Sherman - Centre for Neuroregeneration, University of Edinburgh, Edinburgh EH16 4UU, UKPeter J Brophy - Centre for Neuroregeneration, University of Edinburgh, Edinburgh EH16 4UU, UKStephan Züchner - Department of Human Genetics and Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAMichael E Shy - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.25(10), pp.786-793
- DOI
- 10.1016/j.nmd.2015.07.001
- PMID
- 26227883
- PMCID
- PMC4920059
- NLM abbreviation
- Neuromuscul Disord
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Publisher
- Elsevier B.V
- Grant note
- name: Inherited Neuropathy Consortium-Rare Disease Clinical Research Consortium, award: INC-RDCRC-U54NSO65712; DOI: 10.13039/100000065, name: National Institute of Neurological Disorders and Stroke; DOI: 10.13039/100006108, name: National Center for Advancing Translational Sciences; DOI: 10.13039/100005202, name: Muscular Dystrophy Association; DOI: 10.13039/100002721, name: Charcot-Marie-Tooth Association; DOI: 10.13039/100000002, name: National Institutes of Health, award: U54NS053672; DOI: 10.13039/100004440, name: Wellcome Trust
- Language
- English
- Date published
- 10/2015
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute
- Record Identifier
- 9984013163502771
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