Article
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Journal of Korean medical science - 1 Dec 2007
Kim June Bum, Kim Man Ho, Lee Soon Ju, Kim Dae Joong, Lee Byung Churl
Abstract excerpt
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the relative frequency of...
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