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Article

Dopa-responsive dystonia: a clinical and molecular genetic study.

Annals of neurology - 1 Oct 1998

Bandmann O, Valente E M, Holmans P, Surtees R A, Walters J H, Wevers R A, Marsden C D, Wood N W

Abstract excerpt

We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency. A large number of new heterozygote mutations (seven point mutations, two splice site mutations, and one deletion) as well as a new homozygote mutation in the...

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Identifiers

PMID: 9778264
DOI: 10.1002/ana.410440411

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

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