ADCY5 Related Dyskinesia-A Rare Mutation.
作者信息
Mahesh Bandari, Singh Varun Kumar, Pathak Abhishek, Kumar Anand, Chaurasia Rameshwar Nath
机构信息
Department of Neurology, Institute of Medical Science Banaras Hindu University Varanasi India.
出版信息
Mov Disord Clin Pract. 2022 Feb 16;9(4):553-555. doi: 10.1002/mdc3.13419. eCollection 2022 May.
Abstract
摘要
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.常染色体隐性 ADCY5 相关肌张力障碍和肌阵挛：扩展 ADCY5 相关运动障碍的遗传谱。
Parkinsonism Relat Disord. 2019 Jul;64:145-149. doi: 10.1016/j.parkreldis.2019.02.039. Epub 2019 Feb 28.
3
Autosomal recessive inheritance of -related generalized dystonia and myoclonus.与肌张力障碍和肌阵挛相关的常染色体隐性遗传。
Neurol Genet. 2017 Sep 25;3(5):193. doi: 10.1212/NXG.0000000000000193. eCollection 2017 Oct.
4
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Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.采用脑深部电刺激治疗与ADCY5相关的肌张力障碍、舞蹈症及运动亢进性疾病：一项多中心病例系列研究
J Child Neurol. 2016 Jul;31(8):1027-35. doi: 10.1177/0883073816635749. Epub 2016 Apr 6.
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A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.一种新发的ADCY5突变导致早发性常染色体显性遗传性舞蹈病和肌张力障碍。
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