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Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia

โœ Scribed by S. Bardien; R. Keyser; D. Lombard; M. Du Plessis; H. Human; J. Carr


Book ID
111066056
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
217 KB
Volume
17
Category
Article
ISSN
1351-5101

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## Abstract Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. H