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  • Title: Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).
    Author: Plassart E, Elbaz A, Santos JV, Reboul J, Lapie P, Chauveau D, Jurkat-Rott K, Guimaraes J, Saudubray JM, Weissenbach J.
    Journal: Hum Genet; 1994 Nov; 94(5):551-6. PubMed ID: 7959693.
    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.
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