Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker’s disease) or dominant (Thomsen’s disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride...

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Detalhes bibliográficos
Publicado no:Neuromolecular Med
Main Authors: Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2015
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4534513/
https://ncbi.nlm.nih.gov/pubmed/26007199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12017-015-8356-8
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