Connexin32 and X-linked Charcot–Marie–Tooth Disease

Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded...

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Bibliographic Details
Main Authors: Linda Jo Bone, Suzanne M. Deschênes, Rita J. Balice-Gordon, Kenneth H. Fischbeck, Steven S. Scherer
Format: Article
Language:English
Published: Elsevier 1997-01-01
Series:Neurobiology of Disease
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996197901522