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

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

Abstract 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 docum...

Full description

Bibliographic Details
Main Authors: Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P. Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CACNA1S
creatine kinase
hypokalemic periodic paralysis
insulin secretion
Online Access:https://doi.org/10.1002/mgg3.1175

Internet

https://doi.org/10.1002/mgg3.1175

Similar Items