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X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans

✍ Scribed by Y Kim; K-G Choi; KD Park; KS Lee; KW Chung; B-O Choi


Book ID
110889238
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
722 KB
Volume
81
Category
Article
ISSN
0009-9163

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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