Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

doi:10.1212/wnl.47.2.541

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Article

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Neurology - 1 Aug 1996

Ionasescu V V, Searby C, Ionasescu R, Neuhaus I M, Werner R

Abstract excerpt

We studied two families with X-linked dominant Charcot-Marie-Tooth neuropathy. The clinical findings included onset around age 14 years, with moderate weakness of feet extensors and palmar and dorsal interossei, areflexia, distal hypesthesia, and slow progressivity. Motor nerve conduction velocit...

Topics

Adult
Base Sequence
Charcot-Marie-Tooth Disease
Connexins
Genetic Linkage
Humans
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
X Chromosome
Gap Junction beta-1 Protein

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