Article
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Science (New York, N.Y.) - 24 Dec 1993
Bergoffen J, Scherer S S, Wang S, Scott M O, Bone L J, Paul D L, Chen K, Lensch M W, Chance P F, Fischbeck K H
Abstract excerpt
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is...
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