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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Vydáno v:Neuromolecular Med
Hlavní autoři: Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer US 2015
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Original Paper
On-line přístup: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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