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Na(V)1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers

Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNa(V)1.4 domain I mutation linked to this disease. R222W patients exhibited a higher density of fibers...

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Detalles Bibliográficos
Autores principales:	Bayless-Edwards, Landon, Winston, Vern, Lehmann-Horn, Frank, Arinze, Paula, Groome, James R., Jurkat-Rott, Karin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039468/ https://www.ncbi.nlm.nih.gov/pubmed/29991727 http://dx.doi.org/10.1038/s41598-018-28594-5

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