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Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) |
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| Authors: | Emmanuelle Plassart Alexis Elbaz Jose Vale Santos Jocelyne Reboul Pascale Lapie Dominique Chauveau Karin Jurkat-Rott Joao Guimaraes Jean-Marie Saudubray Jean Weissenbach Frank Lehmann-Horn Bertrand Fontaine |
| Institution: | (1) INSERM U134, Hôpital de la Salpêtrière, 47 boulevard de l'Hôpital, F-75013 Paris, France;(2) Serviço Neurologia, Hospital de Egaz Moniz, P-1300 Lisboa, Portugal;(3) Départment de Néphrologie, Hôpital Necker, F-75015 Paris, France;(4) Abteilung für Angewandte Physiologie, Universität Ulm, D-89081 Ulm, Germany;(5) Départment de Pédiatrie, Hôpital Necker, F-75015 Paris, France;(6) Institut Pasteur, F-75015 Paris;(7) Généthon, F-91 000 Evry, France;(8) Fédération de Neurologie, Hôpital de la Salpêtrière, F-75013 Paris, France |
| 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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