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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...

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Bibliografiske detaljer
Main Authors: Han, Ji-Yeon, Kim, June-Bum
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Pediatric Society 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3254893/
https://ncbi.nlm.nih.gov/pubmed/22253644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2011.54.11.470
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