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Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene

OBJECTIVE—Hereditary progressive dystonia with pronounced diurnal fluctuation ((HPD)/dopa responsive dystonia (DRD)) is a childhood onset dystonia which responds to levodopa. Various clinical signs and symptoms of HPD/DRD have been recognised to date. Mutations in the GTP cyclohydrolase I (GTP-CH-I)...

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Autors principals: Tamaru, Y., Hirano, M., Ito, H., Kawamura, J., Matsumoto, S., Imai, T., Ueno, S.
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 1998
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170031/
https://ncbi.nlm.nih.gov/pubmed/9576537
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