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Article

Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia

1 Apr 1998

Abstract excerpt

We evaluated the influence of gender on penetrance of GTP-cyclohydrolase I (GCH) gene mutations in hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD) and determined whether some apparently sporadic HPD/DRD patients owe their disorder to a de novo mutation of the GCH gene. Previous clinical investigations of HPD/DRD have shown a predominance of affected women, with approximately half of HPD/DRD...

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Identifiers

PMID: 9566388
DOI: 10.1212/wnl.50.4.1015

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