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Sodium channelopathies of skeletal muscle result from gain or loss of function

Five hereditary sodium channelopathies of skeletal muscle have been identified. Prominent symptoms are either myotonia or weakness caused by an increase or decrease of muscle fiber excitability. The voltage-gated sodium channel Na(V)1.4, initiator of the muscle action potential, is mutated in all fi...

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Detalhes bibliográficos
Main Authors: Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2883924/
https://ncbi.nlm.nih.gov/pubmed/20237798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00424-010-0814-4
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