𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new mutation of GCH1 in triplets family with dopa-responsive dystonia

✍ Scribed by N. Tachi; S. Takahashi; M. Jo; M. Shinoda


Book ID
111066665
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
126 KB
Volume
18
Category
Article
ISSN
1351-5101

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel GCH1 mutation in a Brazilian famil
✍ Sarah Teixeira Camargos; Francisco Cardoso; Parastoo Momeni; Juliana Gurgel Gian πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 78 KB

## 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

GCH1 mutation and clinical study of Chin
✍ Xin Liu; Shu-Shan Zhang; Deng-Fu Fang; Ming-Yi Ma; Xiao-Yan Guo; Yuan Yang; Hui- πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 441 KB

## 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