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Updated: Jan 25, 2026

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现型和基因型异质性在一系列与多巴反应性 dystonia 相关的病例中

I G Díaz1, E O Aguilar1, G F Pajarín2

  • 1Servicio de Neurología del Hospital Clínico Universitario de Santiago de Compostela, A Coruña, Spain.

Neurologia
|January 24, 2026
PubMed
概括

与多巴反应性 dystonia (DRD) 相关的遗传突变表现出各种症状,包括帕金森病表型. GCH1基因测试对诊断帕金森病有潜在的遗传联系或家族史上的 dystonia 有价值.

关键词:
迪斯托尼亚是对la dopa的反应.对多巴反应性 dystonia 的反应.他患有帕金森氏症.在 GCH1 基因上.基因 GCH1 基因 GCH1 基因基因 SPR 的基因.帕金森病是帕金森氏症的一种疾病.一个SPR基因.

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