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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans
Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming α subunit (hSkM1) of the skeletal muscle Na(+) channel. Muscle stiffness is the predominant clinical symptom. It is usually induced by exposure to c...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Science Inc
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1664790/ https://ncbi.nlm.nih.gov/pubmed/14617673 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2003.053082 |
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