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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...
Autores principales: | Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2010
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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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