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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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| Główni autorzy: | , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Blackwell Science Inc
2005
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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