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Hum Genet. 1989 May;82(2):163-6.

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

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  • 1Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.


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 9 cM (z = -2.158). These data support the clinical suggestion that MC and DM are non-allelic disorders.

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