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  • Title: Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Author: Yum MS, Ko TS, Yoo HW, Chung SJ.
    Journal: Pediatr Neurol; 2008 May; 38(5):367-9. PubMed ID: 18410856.
    Abstract:
    Dopa-responsive dystonia in children, including guanosine triphosphate cyclohydrolase I deficiency, is an important subcategory of treatable dystonia characterized by a dramatic, sustained response to levodopa. Early diagnosis is difficult, however, because of the heterogeneity of the clinical phenotype. We report on two Korean children affected with dopa-responsive dystonia caused by a novel missense mutation of the guanosine triphosphate cyclohydrolase I gene. One child exhibits a novel sporadic mutation, and the other child demonstrates autosomal-dominant inheritance.
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