Article
Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
Chang Gung medical journal - 1 Jul 2004
Wu Tony, Wang Hung-Li, Chu Chun-Che, Yu Jia-Ming, Chen Jeng-Yeou, Huang Chin-Chang
Abstract excerpt
BACKGROUND: The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) is a hereditary motor and sensory neuropathy linked to a variety of mutations in the connexin32 (Cx32) gene. Clinical and genetic features of CMTX have not previously been reported in Taiwanese. METHODS: Clinical evaluations and electrophysiological studies were carried out on 25 family members of a Taiwanese family group. Molecular genetic...
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