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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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Detalles Bibliográficos
Autores principales: Saleem, Rashid, Setty, Gururaj, Khan, Arif, Farrell, Duncan, Hussain, Nahin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783724/
https://www.ncbi.nlm.nih.gov/pubmed/24082935
http://dx.doi.org/10.4103/1817-1745.117848