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Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by Gene Mutation.

作者信息

Freitas Julian Letícia, Vale Thiago Cardoso, Barsottini Orlando G P, Pedroso José Luiz

机构信息

Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de São Paulo São Paulo Brazil.

Movement Disorders Unit, Service of Neurology University Hospital, Universidade Federal de Juiz de Fora Juiz de Fora Brazil.

出版信息

Mov Disord Clin Pract. 2019 Nov 14;7(1):86-87. doi: 10.1002/mdc3.12854. eCollection 2020 Jan.

DOI:10.1002/mdc3.12854
PMID:31970217
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6962673/
Abstract
摘要

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本文引用的文献

1
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.由 ACTB p.Arg183Trp 杂合性引起的肌张力障碍-耳聋综合征表现出纹状体多巴胺能功能障碍和对苍白球刺激的反应。
J Neurodev Disord. 2018 May 22;10(1):17. doi: 10.1186/s11689-018-9235-z.
2
Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.疾病相关的人类β-肌动蛋白突变p.R183W和p.E364K的分子机制
FEBS J. 2014 Dec;281(23):5279-91. doi: 10.1111/febs.13068. Epub 2014 Oct 13.
3
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.耳聋-肌张力障碍综合征：临床和遗传异质性。
Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15.
4
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.一种改变解聚动力学的β-肌动蛋白突变与常染色体显性发育畸形、耳聋和肌张力障碍有关。
Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21.
5
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.虹膜缺损、上睑下垂、眼距过宽及智力发育迟缓：一种新综合征。
J Med Genet. 1988 Jan;25(1):41-3. doi: 10.1136/jmg.25.1.41.