A Novel ANO3 Gene Mutation Associated with a Dystonia-Ataxia Syndrome.
作者信息
Fu Feng, Kang Yixin, Li Jiaxiang, Jin Nan, Zheng Xiaosheng, Cen Zhidong, Luo Wei
机构信息
Department of Neurology, Zhuji Affiliated Hospital of Wenzhou Medical University, Shaoxing, China.
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
出版信息
Mov Disord Clin Pract. 2024 Dec;11(12):1632-1634. doi: 10.1002/mdc3.14212. Epub 2024 Oct 1.
Abstract
摘要
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The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.ANO3 相关疾病的临床表型：一个新家族的报告及文献复习。
Mov Disord Clin Pract. 2024 Mar;11(3):289-297. doi: 10.1002/mdc3.13979. Epub 2024 Jan 29.
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The expanding clinical and genetic spectrum of ANO3 dystonia.ANO3 肌张力障碍的不断扩大的临床和遗传谱。
Neurosci Lett. 2021 Feb 16;746:135590. doi: 10.1016/j.neulet.2020.135590. Epub 2020 Dec 31.
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Youngest presenting patient with dystonia 24 and review of the literature.最年轻的24型肌张力障碍患者病例报告及文献综述
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Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.遗传性肌张力障碍共济失调综合征：临床谱、诊断方法及治疗选择
Mov Disord Clin Pract. 2018 Jul 3;5(4):373-382. doi: 10.1002/mdc3.12635. eCollection 2018 Jul-Aug.
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Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.早发性全身性肌张力障碍的临床外显子组测序和大规模重测序随访。
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Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.调节钙离子信号：TMEM16、Ist2和TMC的共同主题。
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Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.ANO3 基因突变导致显性颅颈肌张力障碍：离子通道参与发病机制。
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