Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17 |
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| Authors: | Manuela C. Koch Kenneth Ricker Michael Otto Tiemo Grimm Klaus Bender Barbara Zoll Peter S. Harper Frank Lehmann-Horn Reinhardt Rüdel Eric P. Hoffman |
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| Affiliation: | (1) Zentrum für Humangenetik, Abteilung Allgemeine Humangenetik der Philipps Universität, Bahnhofstrasse 7, W-3550 Marburg, Germany;(2) Neurologische Universitätsklinik, Josef-Schneider-Strasse 11, W-8700 Würzburg, Germany;(3) Institut für Humangenetik der Universität, Koellikerstrasse 2, W-8700 Würzburg, Germany;(4) Institut für Humangenetik der Universität, Breisacher Strasse 33, W-7800 Freiburg, Germany;(5) Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400 Göttingen, Germany;(6) Institute of Medical Genetics, University of Wales College of Medicine, CF4 4XN Heath Park, Cardiff, UK;(7) Neurologische Klinik der Technischen Universität, Möhlstrasse 28, W-8000 München, Germany;(8) Abteilung für Allgemeine Physiologie der Universität, Albert-Einstein-Allee 11, W-7900 Ulm, Germany;(9) Department of Molecular Genetics and Biochemistry, University of Pittsburg School of Medicine, 15261 Pittsburgh, PA, USA |
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| Abstract: | Summary Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the  -subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z=20.61,  =0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.Dedicated to Professor P. E. Becker on the occasion of his 83rd birthday. |
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