Article
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
Journal of Korean medical science - 1 Feb 2005
Kim June Bum, Lee Kyung Yil, Hur Jae Kyun
Abstract excerpt
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 dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
