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GENATLAS PHENOTYPE

last update : 19/07/2006

Symbol	MD
Location	11q23.2
Name	dystonia, myoclonic
Other name(s)	dystonia, alcohol-responsive myoclonus, hereditary essential
Corresponding gene	DRD2
Main clinical features	hereditary essential myoclonus and myoclonic dystonia, alleviated by alcohol
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	dopamine receptor D2 (DRD2)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		other	heterozygous for a Val154Ile

Remark(s)