Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

1. Three families with a form of myotonia (muscle stiffness due to membrane hyperexcitability) clinically distinct from previously classified myotonias were examined. The severity of the disease greatly differed among the families. 2. Three dominant point mutations were discovered at the same nucleo...

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Detalhes bibliográficos
Main Authors: Lerche, H, Heine, R, Pika, U, George, A L, Mitrovic, N, Browatzki, M, Weiss, T, Rivet-Bastide, M, Franke, C, Lomonaco, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1143902/
https://ncbi.nlm.nih.gov/pubmed/8308722
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