✦ LIBER ✦

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

✍ Scribed by D. Steinberger; Y. Weber; R. Korinthenberg; G. Deuschl; R. Benecke; J. Martinius; Dr U. Müller

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 533 KB
Volume: 43
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410430512

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Wide expressivity variation and high but

Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation

✍ Antonino Uncini; Maria Vittoria De Angelis; Patrizia Di Fulvio; Michele Ragno; G 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

## Abstract We describe the clinical and molecular correlates in two Italian families with dopa‐responsive dystonia (DRD) and the same novel mutation of GTP‐cyclohydrolase I (GCH‐I) gene. Thirty‐five subjects were examined and the genotype correlated to phenotype. Childhood onset foot dystonia is p

Novel GCH1 mutation in a Brazilian famil

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia

✍ Sarah Teixeira Camargos; Francisco Cardoso; Parastoo Momeni; Juliana Gurgel Gian 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 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