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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2020
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Original Articles
Online toegang: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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