Connexin32 and X-linked Charcot–Marie–Tooth Disease

Abstract excerpt

Mutations in the gap junction gene connexin32 (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 by some Cx32 mutations fall to reach the cell surface; other mutant proteins reach the cell surface, but only one...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Botulinum Toxin and Related Neurological Disorders
• Share to Genetic Neurodegenerative Diseases
• Share to Hereditary Neurological Disorders