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Voltage-sensor mutations in channelopathies of skeletal muscle
Mutations of voltage-gated ion channels cause several channelopathies of skeletal muscle, which present clinically with myotonia, periodic paralysis, or a combination of both. Expression studies have revealed both loss-of-function and gain-of-function defects for the currents passed by mutant channe...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Science Inc
2010
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2901977/ https://ncbi.nlm.nih.gov/pubmed/20156847 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2010.186874 |
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