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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Detalles Bibliográficos
Publicado en: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: Springer US 2015
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Original Paper
Acceso en liña: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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