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Updated: Jun 18, 2026

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扩大DYT-TSPOAP1的基因型和表型谱:来自印度的第一份报告

Vikram V Holla1, Debjyoti Dhar1, Riyanka Kumari2

  • 1Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, 560029, India.

Parkinsonism & related disorders
|December 10, 2025
PubMed
概括

确定了两例超罕见的自体逆向性 dystonia (DYT-TSPOAP1/DYT-22) 的新病例,这些病例是由 TSPOAP1 基因中的新型变异引起的. 这扩大了对这种严重的神经疾病遗传基础的理解.

关键词:
大脑小部分的大脑小部分迪斯托尼亚 (Dystonia) 是一种疾病.尼斯塔格姆斯 (Nystagmus) 是一个的动物.一个TSPOAP1一个TSPOAP.

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