Charcot–Marie–Tooth disease type 2J withMPZThr124Met mutation: clinico-electrophysiological and MRI study of a family
✍ Scribed by Elena Gallardo; Antonio García; César Ramón; Elías Maraví; Jon Infante; Itziar Gastón; Ángel Alonso; Onofre Combarros; Peter De Jonghe; José Berciano
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 482 KB
- Volume
- 256
- Category
- Article
- ISSN
- 0340-5354
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Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ (myelin prot
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