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
โฆ LIBER โฆ
Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene
โ Scribed by H.-L. Wang; T. Wu; W.-T. Chang; A.H. Li; M.-S. Chen; C.-Y. Wu; W. Fang
- Book ID
- 117385494
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 276 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0169-328X
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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)