Linkage studies of Myotonia congenita and Paramyotonia congenita |
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| Authors: | K. Bender H. Senff A. Steiert H. Lagodny T. F. Wenker M. Koch |
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| Affiliation: | Institut für Humangenetik und Anthropologie, Universit?t Freiburg, FRG. |
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| Abstract: | Six German families segregating for Myotonia congenita (MC) and eight families from Germany and Great Britain with Paramyotonia congenita (PC) were tested for linkage relationships using 35 serological and biochemical markers. No linkage of MC to any of the markers was evident, but a positive sum of lod scores for PC vs. the HP locus (z = 1.16, theta = 0.16) was found. The results encourage further investigations involving chromosome 16 markers. |
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| Keywords: | dominant non-progressive myotonic disorders exclusion mapping serological and biochemical markers |
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