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N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita
KEY POINTS: Paramyotonia congenita is a hereditary channelopathy caused by missense mutations in the SCN4A gene, which encodes the α subunit of the human skeletal muscle voltage‐gated sodium channel NaV1.4. Affected individuals suffered from myotonia and paralysis of muscles, which were aggravated b...
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| Publicado no: | J Physiol |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5685822/ https://ncbi.nlm.nih.gov/pubmed/28940424 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP274877 |
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