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Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19

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Summary

Linkage analysis has been carried out in six German families with autosomal dominantly inherited myotonia congenita (Thomsen's disease) using five chromosome 19 markers known to be linked to the gene for myotonic dystrophy (DM). Two of the markers, APOC1 and APOC2, are tightly linked to DM. Close linkage between these markers and myotonia congenita (MC) has been excluded to a distance of 9cM (z=-2.158). These data support the clinical suggestion that MC and DM are non-allelic disorders.

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Author notes

  1. Manuela Koch

    Present address: Institut für Humangenetik und Genetische Poliklinik der Universität, Bahnhofstrasse 7a, D-3550, Marburg/Lahn, Germany

Authors and Affiliations

  1. Institute of Medical Genetics, University of Wales College of Medicine, Health Park, CF4 4XN, Cardiff, UK

    Manuela Koch, Helen Harley, M. Sarfarazi & P. S. Harper

  2. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany

    Barbara Zoll

  3. Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, D-7800, Freiburg i.Br., Germany

    K. Bender & T. Wienker

Authors
  1. Manuela Koch
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  2. Helen Harley
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  3. M. Sarfarazi
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  4. K. Bender
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  5. T. Wienker
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  6. Barbara Zoll
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  7. P. S. Harper
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Koch, M., Harley, H., Sarfarazi, M. et al. Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19. Hum Genet 82, 163–166 (1989). https://doi.org/10.1007/BF00284051

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  • DOI: https://doi.org/10.1007/BF00284051

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