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Article

Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins.

Neurology - 24 Feb 2004

Grötzsch H, Schnorf H, Morris M A, Moix I, Horvath J, Prilipko O, Burkhard P R

Abstract excerpt

The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of...

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Identifiers

PMID: 14981186
DOI: 10.1212/01.wnl.0000110192.27794.e8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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