A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
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ABSTRACT:
SUBMITTER: Klein C
PROVIDER: S-EPMC1288573 | biostudies-literature | 2000 Nov
REPOSITORIES: biostudies-literature
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A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
Klein C C Schilling K K Saunders-Pullman R J RJ Garrels J J Breakefield X O XO Brin M F MF deLeon D D Doheny D D Fahn S S Fink J S JS Forsgren L L Friedman J J Frucht S S Harris J J Holmgren G G Kis B B Kurlan R R Kyllerman M M Lang A E AE Leung J J Raymond D D Robishaw J D JD Sanner G G Schwinger E E Tabamo R E RE Tagliati M M
American journal of human genetics 20001005 5
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 ...[more]
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