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Disrupted coupling of gating charge displacement to Na(+) current activation for DIIS4 mutations in hypokalemic periodic paralysis
Missense mutations at arginine residues in the S4 voltage-sensor domains of Na(V)1.4 are an established cause of hypokalemic periodic paralysis, an inherited disorder of skeletal muscle involving recurrent episodes of weakness in conjunction with low serum K(+). Expression studies in oocytes have re...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113897/ https://www.ncbi.nlm.nih.gov/pubmed/25024265 http://dx.doi.org/10.1085/jgp.201411199 |