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Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this d...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Pediatric Society
2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3254893/ https://www.ncbi.nlm.nih.gov/pubmed/22253644 http://dx.doi.org/10.3345/kjp.2011.54.11.470 |