Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.
作者信息
Radhakrishnan Divya M, Saini Arti, Fatima Saman, Gupta Anu, Vishnu Venugopalan Y, Singh Mamta Bhushan, Bhatia Rohit, Srivastva M V Padma, Srivastava Achal K, Rajan Roopa
机构信息
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
出版信息
Mov Disord Clin Pract. 2024 Apr;11(4):438-440. doi: 10.1002/mdc3.13950. Epub 2023 Dec 17.
Abstract
摘要
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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.COQ8A-共济失调的临床-遗传、影像和分子特征：59 例患者的多中心研究。
Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10.
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Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.伴早发性书写障碍的发作性共济失调伴肌张力障碍：COQ8A 突变携带者的病例系列和文献复习。
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