A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)

Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel: the di...

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Hlavní autoři: Kim, June-Bum, Lee, Kyung-Yil, Hur, Jae-Kyun
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Academy of Medical Sciences 2005
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2808567/
https://ncbi.nlm.nih.gov/pubmed/15716625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2005.20.1.162
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