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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

✍ Scribed by Geir J Braathen; Jette C Sand; Geir Bukholm; Michael B Russell


Book ID
115009463
Publisher
BioMed Central
Year
2007
Tongue
English
Weight
292 KB
Volume
7
Category
Article
ISSN
1471-2377

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📜 SIMILAR VOLUMES


X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND
✍ Victor V. Ionasescu 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 166 KB

We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations

Novel mutations in the connexin 32 gene
✍ Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 2 views

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