Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
β Scribed by Anthony Antonellis; Rachel E. Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T. Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoit Funalot; Jeffery M. Vance; Lev G. Goldfarb; Kenneth H. Fischbeck; Eric D. Green
- Book ID
- 117854204
- Publisher
- American Society of Human Genetics
- Year
- 2003
- Tongue
- English
- Weight
- 687 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/375039
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π SIMILAR VOLUMES
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
Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a