X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND
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Victor V. Ionasescu
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Article
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1998
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Elsevier Science
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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