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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Original Articles
Accés en línia: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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