Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations

Mutations in the muscle chloride channel gene (CLCN1) cause myotonia congenita, an inherited condition characterized by muscle stiffness upon sudden forceful movement. We here studied the functional consequences of four disease-causing mutations that predict amino acid substitutions Q43R, S70L, Y137...

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Detalles Bibliográficos
Autores principales: Ronstedt, Katharina, Sternberg, Damien, Detro-Dassen, Silvia, Gramkow, Thomas, Begemann, Birgit, Becher, Toni, Kilian, Petra, Grieschat, Matthias, Machtens, Jan-Philipp, Schmalzing, Günther, Fischer, Martin, Fahlke, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621517/
https://www.ncbi.nlm.nih.gov/pubmed/26502825
http://dx.doi.org/10.1038/srep15382

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