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X-linked Charcot-Marie-Tooth disease

✍ Scribed by Scherer, Steven S.; Kleopa, Kleopas A.


Book ID
119855259
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
516 KB
Volume
17
Category
Article
ISSN
1085-9489

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✍ 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