Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

Myotonia congenita is a genetic condition that is caused by mutations in the muscle chloride channel gene CLCN1 and characterized by delayed muscle relaxation and muscle stiffness. We here investigate the functional consequences of two novel disease-causing missense mutations, C277R and C277Y, using...

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Autores principales: Weinberger, Sebastian, Wojciechowski, Daniel, Sternberg, Damien, Lehmann-Horn, Frank, Jurkat-Rott, Karin, Becher, Toni, Begemann, Birgit, Fahlke, Christoph, Fischer, Martin
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Science Inc 2012
Materias:
Molecular and Cellular
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3547262/
https://ncbi.nlm.nih.gov/pubmed/22641783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2012.232785
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