Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.

doi:10.1002/ana.410440312

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Article

Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.

Annals of neurology - 1 Sept 1998

Hirano M, Yanagihara T, Ueno S

Abstract excerpt

Hereditary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH). The clinical presentation of this disease varies considerably, and many cases appear to be sporadic. We have previously proposed that this clinical variation may be due to differential expressi...

Topics

Adolescent
Animals
COS Cells
Dihydroxyphenylalanine
Dystonia
Female
GTP Cyclohydrolase
Gait
Genes, Dominant
Heterozygote
Humans
Lymphocytes
Phenotype
Point Mutation
RNA, Messenger
Transfection

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