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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

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.[1]


  1. Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). Plassart, E., Elbaz, A., Santos, J.V., Reboul, J., Lapie, P., Chauveau, D., Jurkat-Rott, K., Guimaraes, J., Saudubray, J.M., Weissenbach, J. Hum. Genet. (1994) [Pubmed]
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