A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressiv...

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Bibliographic Details
Main Authors: Rosana H. Scola, Carla Carducci, Vanise G. Amaral, Paulo J. Lorenzoni, Helio A.G. Teive, Teresa Giovanniello, Lineu C. Werneck
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 2007-12-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
distonia
levodopa
distonia dopa-responsiva
guanosina trifosfato ciclo-hidrolase 1
gene GCH1
dystonia
dopa-responsive dystonia
guanosine triphosphate cyclohydrolase 1
GCH1 gene
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026

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