A linkage study of Emery-Dreifuss muscular dystrophy

Hum Genet. 1986 Dec;74(4):409-16. doi: 10.1007/BF00280495.

Abstract

We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15. This is in agreement with the previously reported linkage between a disorder strongly resembling EDMD and colour-blindness (Thomas et al. 1972), suggesting that there is a second locus on the X chromosome concerned with muscle integrity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophy, Emery-Dreifuss
  • Pedigree
  • X Chromosome*

Substances

  • Genetic Markers