The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

BACKGROUND: Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐1 subunit of calcium channel. Few reports have documented th...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Kurokawa, Mari, Torio, Michiko, Ohkubo, Kazuhiro, Tocan, Vlad, Ohyama, Noriko, Toda, Naoko, Ishii, Kanako, Nishiyama, Kei, Mushimoto, Yuichi, Sakamoto, Ryuichi, Nakaza, Maki, Horie, Riho, Kubota, Tomoya, Takahashi, Masanori P., Sakai, Yasunari, Nomura, Masatoshi, Ohga, Shouichi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196457/
https://ncbi.nlm.nih.gov/pubmed/32104981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1175
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