Article
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.
Neuroreport - 25 Feb 1999
Brique S, Destée A, Lambert J C, Mouroux V, Delacourte A, Amouyel P, Chartier-Harlin M C
Abstract excerpt
We found a new mutation in the GTP cyclohydrolase gene involved in dopa-responsive dystonia. We sequenced the GTP cyclohydrolase gene in a family with four siblings affected by this disorder and identified an A-T mutation in exon 2, leading to a non conservative amino acid substitution at codon 135 of the protein (Ile135Lys), which may change the conformation of the binding site of this enzyme. The clinical...
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