A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

Missense mutations in the skeletal muscle sodium channel α-subunit gene (SCN4A) are associated with a group of clinically overlapping diseases caused by alterations in the excitability of the sarcolemma. Sodium channel defects may increase excitability and cause myotonic stiffness or may render fibr...

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Hlavní autoři: Wu, Fen-fen, Gordon, Erynn, Hoffman, Eric P, Cannon, Stephen C
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Science Inc 2005
Témata:
Molecular and Genomic Physiology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1464529/
https://ncbi.nlm.nih.gov/pubmed/15774523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2005.082909
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