| Literature DB >> 7959693 |
E Plassart1, A Elbaz, J V Santos, J Reboul, P Lapie, D Chauveau, K Jurkat-Rott, J Guimaraes, J M Saudubray, J Weissenbach.
Abstract
Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases known to involve an abnormal function of ion channels. The latter includes hypokalemic and hyperkalemic periodic paralyses, and non-dystrophic myotonias. We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3. We propose to term this locus hypoPP-1. Using extended haplotypes with new markers located on chromosome 1q31-32, we now report the detailed mapping of hypoPP-1 within a 7 cM interval. Two recombinants between hypoPP-1 and the flanking markers D1S413 and D1S510 should help to reduce further the hypoPP-1 interval. We used this new information to demonstrate that a large family of French origin displaying hypoPP is not genetically linked to hypoPP-1. We excluded genetic linkage over the entire hypoPP-1 interval showing for the first time genetic heterogeneity in hypoPP.Entities:
Mesh：
Year: 1994 PMID： 7959693 DOI： 10.1007/BF00211025
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132