Article
Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2001
Kim S H, Kim U K, Chae J J, Kim D J, Oh H Y, Kim B J, Lee C C
Abstract excerpt
BACKGROUND: Hypokalaemic periodic paralysis (hypoPP) is an autosomal dominant disorder involving the abnormal function of ion channels and it is characterized by paralysis attacks of varying severity, accompanied by a fall in blood potassium levels. Linkage analysis showed that the candidate locus responsible for hypoPP was localized to chromosome 1q31-32, and this locus encoded the muscle...
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