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- Title
Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.
- Authors
Kim, Sung Han; Kim, Un Kyung; Chae, Jae Jin; Kim, Dae Joong; Oh, Ha‐Young; Kim, Byoung Joon; Lee, Chung Choo
- Abstract
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 dihydropyridine‐sensitive calcium channel α1‐subunit (CACNA1S). So far, three different mutations in CACNA1S gene have been identified in patients with hypoPP: Arg528His, Arg1239His and Arg1239Gly in Caucasian patients. However, there are few reports about the mutations of CACNA1S gene in other races.
- Publication
Nephrology Dialysis Transplantation, 2001, Vol 16, Issue 5, p939
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/16.5.939