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 new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease
โ Scribed by G. Di Iorio; V. Cappa; A. Ciccodicola; S. Sampaolo; A. Ammendola; G. Sanges; R. Giugliano; M. D'Urso
- Publisher
- Springer Milan
- Year
- 2000
- Tongue
- English
- Weight
- 457 KB
- Volume
- 21
- Category
- Article
- ISSN
- 1590-1874
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## Abstract We report a family with Xโlinked dominant CharcotโMarieโTooth 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)
DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und