Article
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Molecular genetics & genomic medicine - 1 Apr 2020
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
Abstract excerpt
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 the non-neuromuscular phenotypes of HypoPP. METHODS: The proband is a Japanese woman who developed HypoPP at 6 years...
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