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
Autores principales: Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534513/
https://www.ncbi.nlm.nih.gov/pubmed/26007199
http://dx.doi.org/10.1007/s12017-015-8356-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534513/
https://www.ncbi.nlm.nih.gov/pubmed/26007199
http://dx.doi.org/10.1007/s12017-015-8356-8

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