Article
Severe neuropathy with leaky connexin32 hemichannels.
Annals of neurology - 1 May 2005
Liang Grace S Lin, de Miguel Marta, Gómez-Hernández Juan M, Glass Jonathan D, Scherer Steven S, Mintz Mark, Barrio Luis C, Fischbeck Kenneth H
Abstract excerpt
X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused by mutations in gap junction proteins called connexins. We identified a connexin32 missense mutation (F235C) in a girl with unusually severe neuropathy. The localization and trafficking of the mutant protein in cell culture was normal, but electrophysiological studies showed that the mutation caused abnormal hemichannel opening, with...
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