Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.

Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion. One hypothesis for myotonia congenita is that the inherita...

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Bibliographic Details
Main Authors: Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3570542?pdf=render