Journal article
Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation
Muscle & nerve, Vol.56(6), pp.1092-1095
12/2017
DOI: 10.1002/mus.25600
PMCID: PMC5587391
PMID: 28164329
Abstract
ABSTRACT\nIntroduction\nCharcot–Marie–Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide‐induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene.\nMethods\nWe present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases.\nResults\nThe Gly112Ser mutation causing CMT1C is a mild form of CMT, as patients walked on time, had less weakness than those with Charcot–Marie–Tooth disease type 1A (CMT1A), had a CMT neuropathy score (CMTNS) indicative of mild disease, and had faster ulnar and median motor nerve conduction velocities compared to those with CMT1A.\nDiscussion\nThe G112S mutation in LITAF seems to be clinically indistinguishable from a mild presentation of CMT1A. Muscle Nerve 56: 1092–1095, 2017
Details
- Title: Subtitle
- Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation
- Creators
- Nivedita U Jerath - University of Iowa Carver College of MedicineMichael E Shy - University of Iowa Carver College of Medicine
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.56(6), pp.1092-1095
- DOI
- 10.1002/mus.25600
- PMID
- 28164329
- PMCID
- PMC5587391
- NLM abbreviation
- Muscle Nerve
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Number of pages
- 4
- Grant note
- Charcot‐Marie‐Tooth Association\nMuscular Dystrophy Association\nOffice of Rare Diseases (U54NS065712)\nNational Institute of Neurological Disorders and Stroke
- Language
- English
- Date published
- 12/2017
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984070326702771
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