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A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

1. Paramyotonia congenita (PC) is a human hereditary disorder wherein missense mutations in the skeletal muscle sodium channel lead to cold-exacerbated muscle hyperexcitability. The most common site for PC mutations is the outermost arginine of domain IV segment 4 (human R1448, rat R1441). 2. We exa...

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Autors principals: Featherstone, David E, Fujimoto, Esther, Ruben, Peter C
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Science Inc 1998
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230742/
https://ncbi.nlm.nih.gov/pubmed/9503326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-7793.1998.627bv.x
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