A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chlor...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Gandolfi, Barbara, Daniel, Rob J., O'Brien, Dennis P., Guo, Ling T., Youngs, Melanie D., Leach, Stacey B., Jones, Boyd R., Shelton, G. Diane, Lyons, Leslie A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4214686/
https://ncbi.nlm.nih.gov/pubmed/25356766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0109926
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