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Article

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 1997

Jarman P R, Bandmann O, Marsden C D, Wood N W

Abstract excerpt

OBJECTIVES: To investigate the hypothesis that GTP cyclohydrolase I (GCH1) mutations are responsible for the phenotype of highly anticholinergic responsive dystonia in patients with apparent primary torsion dystonia. METHODS: From 107 British patients with clinically diagnosed primary torsion dystonia, seven patients were identified with an excellent response to anticholinergic drugs. All six exons of the GCH1...

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Source

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Identifiers

PMID: 9328244
DOI: 10.1136/jnnp.63.3.304
PMCID: PMC2169710

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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