GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease
✍ Scribed by Claudia Gonzaga-Jauregui; Feng Zhang; Charles F. Towne; Sat Dev Batish; James R. Lupski
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 516 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1364-6745
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
## 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)