Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot–Marie–Tooth disease

Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot–Marie–Tooth disease

The X-linked form of Charcot–Marie–Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32), a gap junction protein expressed by Schwann cells where it forms reflexive channels that allow the passage of ions and signaling molecules across the myelin sheath. Although most mutations result in...

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Bibliographic Details
Main Authors: Massimiliano Bicego, Sabina Morassutto, Victor H. Hernandez, Marcello Morgutti, Fabio Mammano, Paola D'Andrea, Roberto Bruzzone
Format: Article
Language:English
Published: Elsevier 2006-03-01
Series:Neurobiology of Disease
Subjects:
Connexin
Dye coupling
Gap junction
Genetic disease
Human
PNS
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996105002482

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