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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196457/
https://www.ncbi.nlm.nih.gov/pubmed/32104981
http://dx.doi.org/10.1002/mgg3.1175

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196457/
https://www.ncbi.nlm.nih.gov/pubmed/32104981
http://dx.doi.org/10.1002/mgg3.1175

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