CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC...

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Bibliographic Details
Main Authors: Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3859631?pdf=render

Internet

http://europepmc.org/articles/PMC3859631?pdf=render

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