Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.
作者信息
Gomathy Saranya B, Das Animesh, Parihar Jasmine, Singh Rajesh Kumar, Vibha Deepti, Tripathi Manjari
机构信息
Department of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Department of Neurology, AIIMS, New Delhi, India.
出版信息
Mov Disord Clin Pract. 2025 Feb;12(2):236-238. doi: 10.1002/mdc3.14250. Epub 2024 Nov 6.
Abstract
摘要
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本文引用的文献
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DYT30 due to Mutation: An Etiology of Childhood-Onset Generalized Dystonia.由突变引起的DYT30：儿童期起病的全身性肌张力障碍的一种病因
Ann Indian Acad Neurol. 2023 May-Jun;26(3):286-288. doi: 10.4103/aian.aian_59_23. Epub 2023 Apr 20.
2
De Novo Missense Mutation of in a Chinese Patient with Generalized Dystonia with Myoclonus.一名患有全身性肌张力障碍伴肌阵挛的中国患者中的[基因名称]新发错义突变 。 （你提供的原文中基因名称缺失，请补充完整以便更准确翻译）
Mov Disord Clin Pract. 2021 Dec 26;9(4):551-552. doi: 10.1002/mdc3.13392. eCollection 2022 May.
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Transcript-Specific Loss-of-Function Variants in Are Enriched in Patients With Dystonia.转录本特异性功能丧失变异在肌张力障碍患者中富集。
Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb.
4
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.纯合错义 VPS16 变异与一种新的疾病相关，该疾病类似于两名兄弟姐妹的黏多糖贮积症-plus 综合征。
Clin Genet. 2021 Sep;100(3):308-317. doi: 10.1111/cge.14002. Epub 2021 Jun 4.
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A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.早发性全身性肌张力障碍中一种复发性的VPS16 p.Arg187*无义变异体
Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17.
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Mutation screening of VPS16 gene in patients with isolated dystonia.孤立性肌张力障碍患者VPS16基因的突变筛查
Parkinsonism Relat Disord. 2021 Feb;83:63-65. doi: 10.1016/j.parkreldis.2020.12.014. Epub 2021 Jan 12.
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Ann Neurol. 2021 Mar;89(3):625-626. doi: 10.1002/ana.25990. Epub 2020 Dec 28.
9
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Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.
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