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De Novo Missense Mutation of in a Chinese Patient with Generalized Dystonia with Myoclonus.

作者信息

Gu Xiaojing, Lin Junyu, Hou Yanbing, Zhang Lingyu, Shang Huifang

机构信息

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital Sichuan University Chengdu China.

出版信息

Mov Disord Clin Pract. 2021 Dec 26;9(4):551-552. doi: 10.1002/mdc3.13392. eCollection 2022 May.

DOI:10.1002/mdc3.13392
PMID:35586525
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9092738/
Abstract
摘要

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Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.VPS-16基因突变导致的语音震颤：拓宽临床谱
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A Novel Pattern of Dystonia in DYT-: "Speaking in Tongues".DYT-型肌张力障碍的一种新形式：“言语紊乱”
Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.
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Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.优势 VPS16 致病性变异：不仅仅是孤立性肌张力障碍。
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Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.病例报告：患有手部肌张力障碍的非典型Silver-Russell综合征患者：共识声明对广泛综合征谱的重要支持
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本文引用的文献

1
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.
2
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.肌张力障碍患者外显子测序数据中具有临床相关性的拷贝数变异
Parkinsonism Relat Disord. 2021 Mar;84:129-134. doi: 10.1016/j.parkreldis.2021.02.013. Epub 2021 Feb 12.
3
Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.56例早发性肌张力障碍患者VPS16基因的突变
Mov Disord. 2021 Mar;36(3):780-781. doi: 10.1002/mds.28540. Epub 2021 Feb 17.
4
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.
5
Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.截短型VPS16突变在早发性肌张力障碍中罕见。
Ann Neurol. 2021 Mar;89(3):625-626. doi: 10.1002/ana.25990. Epub 2020 Dec 28.
6
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.HOPS 复合物基因 VPS16 和 VPS41 的功能丧失变异导致伴有溶酶体异常的早发性肌张力障碍。
Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.