Article
Phenotypic features of myoclonus-dystonia in three kindreds.
Neurology - 22 Oct 2002
Doheny D O, Brin M F, Morrison C E, Smith C J, Walker R H, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman S B, Schmand B, Tijssen M A J, Ozelius L J, Silverman J M
Abstract excerpt
BACKGROUND: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family). OBJECTIVE: To investigate the clinical phenotype associated with M-D including motor symptoms,...
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