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X-linked Charcot-Marie-Tooth Disease and Connexin32

✍ Scribed by KENNETH H. FISCHBECK; ANNETTE ABEL; GRACE S. LIN; STEVEN S. SCHERER


Book ID
111395453
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
712 KB
Volume
883
Category
Article
ISSN
0890-6564

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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