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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Detalhes bibliográficos
Main Authors: Skálová, Daniela, Zídková, Jana, Voháňka, Stanislav, Mazanec, Radim, Mušová, Zuzana, Vondráček, Petr, Mrázová, Lenka, Kraus, Josef, Réblová, Kamila, Fajkusová, Lenka
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3859631/
https://ncbi.nlm.nih.gov/pubmed/24349310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0082549
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