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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...

詳細記述

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書誌詳細
主要な著者: Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank
フォーマット: Artigo
言語:Inglês
出版事項: Springer-Verlag 2010
主題:
オンライン・アクセス: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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