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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Veröffentlicht in:Neuromolecular Med
Hauptverfasser: Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2015
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Original Paper
Online Zugang: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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