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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer-Verlag 2010
Aiheet:
Linkit: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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