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Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review

Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle weakn...

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Hlavní autoři: Saleem, Rashid, Setty, Gururaj, Khan, Arif, Farrell, Duncan, Hussain, Nahin
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3783724/
https://ncbi.nlm.nih.gov/pubmed/24082935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.117848
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