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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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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6039468/ https://ncbi.nlm.nih.gov/pubmed/29991727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-28594-5 |
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