Article
High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.
Annals of neurology - 1 May 1998
Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Müller U
Abstract excerpt
We performed a clinical and molecular genetic analysis in members of five families with dopa-responsive dystonia. Four mutations were detected in the gene GCH1 that codes for GTP cyclohydrolase I. Two of these mutations, a delG309 in exon 1 and a C544T transition in exon 5, have not been described before. They result in inactivation of the enzyme by truncation. The remaining two mutations, both A to G...
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