Article
Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2004
Uncini Antonino, De Angelis Maria Vittoria, Di Fulvio Patrizia, Ragno Michele, Annesi Grazia, Filla Alessandro, Stuppia Liborio, Gambi Domenico
Abstract excerpt
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 present in 7 subjects currently under the age of 40. In 1 patient bilateral foot dystonia was evident at birth suggesting that...
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