Article
A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
Brain research. Molecular brain research - 31 Mar 2001
Bergmann C, Schröder J M, Rudnik-Schöneborn S, Zerres K, Senderek J
Abstract excerpt
The sensorimotor neuropathy Charcot-Marie-Tooth disease (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the connexin32 gene (Cx32). The majority of CMTX cases harbour mutations in the coding region while a few cases have been reported to result from mutations in the promoter region. We found a G-713A transition...
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