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
Charcot–Marie–Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation
✍ Scribed by Ayumi Hamaguchi; Chiho Ishida; Kazuo Iwasa; Akiko Abe; Masahito Yamada
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 255 KB
- Volume
- 257
- Category
- Article
- ISSN
- 0340-5354
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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
## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c