Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na(V)1.4

Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel Na(V)1.4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) and myotonia. HyperPP and myotonia are caused by Na(V)1.4 channel overactivity and overlap clinically. Instead, hypoPP is c...

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Detalles Bibliográficos
Autores principales: Luo, Sushan, Sampedro Castañeda, Marisol, Matthews, Emma, Sud, Richa, Hanna, Michael G., Sun, Jian, Song, Jie, Lu, Jiahong, Qiao, Kai, Zhao, Chongbo, Männikkö, Roope
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018793/
https://www.ncbi.nlm.nih.gov/pubmed/29946067
http://dx.doi.org/10.1038/s41598-018-27822-2

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