by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x-linked charcot-marie-tooth disease
✍ Scribed by Anna Sillén; Göran Annerén; Niklas Dahl
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 302 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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## Abstract We report a family with X‐linked dominant Charcot–Marie–Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser)
Charcot-Marie-Tooth (CMT) disease consists of genetically heterogeneous neuropathies. Molecular genetic procedures have shown that most patients with CMT type 1 (autosomal dominant, hypertrophic form) have 1.5 Mb CMTlA duplication containing peripheral myelin protein-22 (PMP-22) gene
## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese X‐linked Charcot–Marie–Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin