Clinical and genetic description of a family with Charcot–Marie–Tooth disease type 1B from a transmembrane MPZ mutation
✍ Scribed by Scott D. Z. Eggers; Sanjay C. Keswani; Giorgia Melli; David R. Cornblath
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 70 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0148-639X
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Charcot-Marie-Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the Po myelin protein gene on chromosome 1. We report here a 20-year observation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1
Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expr