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Na(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery
Hypokalaemic periodic paralysis is typically associated with mutations of voltage sensor residues in calcium or sodium channels of skeletal muscle. To date, causative sodium channel mutations have been studied only for the two outermost arginine residues in S4 voltage sensor segments of domains I to...
Autores principales: | Groome, James R., Lehmann-Horn, Frank, Fan, Chunxiang, Wolf, Markus, Winston, Vern, Merlini, Luciano, Jurkat-Rott, Karin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959555/ https://www.ncbi.nlm.nih.gov/pubmed/24549961 http://dx.doi.org/10.1093/brain/awu015 |
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