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Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans

1. Paramyotonia congenita is a temperature-sensitive skeletal muscle disorder caused by missense mutations that occur in the adult skeletal muscle voltage-gated sodium channel. We report here the identification of a new genetic mutation in a family with the paramyotonia congenita phenotype. 2. Singl...

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Hlavní autoři: Bendahhou, Saïd, Cummins, Theodore R, Kwiecinski, Hubert, Waxman, Stephen G, Ptácek, Louis J
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Science Inc 1999
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2269438/
https://ncbi.nlm.nih.gov/pubmed/10381583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-7793.1999.0337p.x
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