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Dystonia-Deafness Syndrome: Pathogenic Variant in an Argentinean Family.

作者信息

Zavala Lucía, Ziegler Gabriela, Morón Dolores González, Garretto Nélida

机构信息

Chronic and Hereditary Ataxias Program, Neurogenetics Unit, Department of Neurology J. M. Ramos Mejía Hospital, University Center of Neurology, University of Buenos Aires Buenos Aires Argentina.

Movement Disorders Section, Department of Neurology J. M. Ramos Mejía Hospital, University Center of Neurology, University of Buenos Aires Buenos Aires Argentina.

出版信息

Mov Disord Clin Pract. 2021 Nov 14;9(1):122-124. doi: 10.1002/mdc3.13358. eCollection 2022 Jan.

DOI:10.1002/mdc3.13358
PMID:35005077
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8721817/
Abstract
摘要

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Orphanet J Rare Dis. 2021 Jan 15;16(1):32. doi: 10.1186/s13023-021-01688-6.
2
Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by Gene Mutation.由基因突变引起的肌张力障碍-耳聋综合征的表型扩展
Mov Disord Clin Pract. 2019 Nov 14;7(1):86-87. doi: 10.1002/mdc3.12854. eCollection 2020 Jan.
3
Could Dissimilar Phenotypic Effects of Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.错义突变的不同表型效应能否反映肌动蛋白的构象变化？两个新突变及文献综述。
Mol Syndromol. 2019 Jan;9(5):259-265. doi: 10.1159/000492267. Epub 2018 Aug 9.
4
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J Neurodev Disord. 2018 May 22;10(1):17. doi: 10.1186/s11689-018-9235-z.
5
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.联合型和复杂型肌张力障碍的分子多样性：来自诊断外显子组测序的见解。
Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28.
6
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