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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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Autori principali: Saleem, Rashid, Setty, Gururaj, Khan, Arif, Farrell, Duncan, Hussain, Nahin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Medknow Publications & Media Pvt Ltd 2013
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Accesso online: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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