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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...

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Detalles Bibliográficos
Autores principales: Groome, James R., Lehmann-Horn, Frank, Fan, Chunxiang, Wolf, Markus, Winston, Vern, Merlini, Luciano, Jurkat-Rott, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
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