Article
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.
Nature genetics - 1 Dec 1993
Nygaard T G, Wilhelmsen K C, Risch N J, Brown D L, Trugman J M, Gilliam T C, Fahn S, Weeks D E
Abstract excerpt
Dopa-responsive dystonia (DRD) is an autosomal-dominant neurological disorder which appears to result from a genetically determined deficiency of striatal dopamine. Pathological evidence suggests that this may be due to the establishment of a reduced number of dopaminergic nerve terminals in the striatum, or to an excessive reduction (pruning) of these terminals in early development. We have mapped the DRD gene...
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