A major locus for myoclonus-dystonia maps to chromosome 7q in eight families

Christine Klein, Karla Schilling, Rachel J. Saunders-Pullman, Jennifer Garrels, Xandra O. Breakefield, Mitchell F. Brin, Deborah DeLeon, Dana Doheny, Stanley Fahn, J. Stephen Fink, Lars Forsgren, Jennifer Friedman, Steven Frucht, Juliette Harris, Gosta Holmgren, Bernhard Kis, Roger Kurlan, Martin Kyllerman, Anthony E. Lang, Joanne LeungDeborah Raymond, Janet D. Robishaw, Gunnar Sanner, Eberhard Schwinger, Rowena E. Tabamo, Michele Tagliati, Peter Vieregge, Jan Wahlstrom, Kristin J. Wendt, Patricia L. Kramer, Susan B. Bressman, Laurie J. Ozelius

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.

Original languageEnglish (US)
Pages (from-to)1314-1319
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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