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Article

Dystonia with motor delay in compound heterozygotes for GTP‐cyclohydrolase I gene mutations

1 Jul 1998

Abstract excerpt

Mutations in the GTP-cyclohydrolase I (GCH) gene have been identified as a cause of two disorders: autosomal dominant hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD) and autosomal recessive GCH-deficient hyperphenylalaninemia (HPA). Detailed clinical descriptions and genetic analysis of patients with phenotypes intermediate between HPD/DRD (mild) and GCH-deficient HPA (severe) have not been...

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PMID: 9667588
DOI: 10.1002/ana.410440107

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