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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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Detalles Bibliográficos
Autores principales: Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883924/
https://www.ncbi.nlm.nih.gov/pubmed/20237798
http://dx.doi.org/10.1007/s00424-010-0814-4

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