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Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene

A 26 year old woman with dopa responsive dystonia and cytogenetically confirmed Turner's syndrome had bilateral globus pallidus hypointensity on brain MRI. Among the living members of a five generation pedigree the patient's mother and the mother's sister also had dopa responsive dyst...

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Detalhes bibliográficos
Main Authors: Nitschke, M, Steinberger, D, Heberlein, I, Otto, V, Muller, U, Vieregge, P
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170124/
https://ncbi.nlm.nih.gov/pubmed/9647318
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