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The metabolic pathology of dopa-responsive dystonia

✍ Scribed by Kotaro Asanuma; Yilong Ma; Chaorui Huang; Maren Carbon-Correll; Christine Edwards; Deborah Raymond; Susan B. Bressman; James R. Moeller; David Eidelberg

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
681 KB
Volume
57
Category
Article
ISSN
0364-5134

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## Abstract Dopa‐responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (__GCH1__). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the __GCH1