线粒体10197G > A突变导致的成人起病型 Leigh 综合征中的脊髓广泛受累。 - Suppr

Extended spinal cord involvement in adult-onset Leigh syndrome due to mitochondrial 10197G > A mutation.

作者信息

Wei Yanping, Qian Min, Yang Yingmai

机构信息

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China.

出版信息

Neurol Sci. 2022 Dec;43(12):6997-7000. doi: 10.1007/s10072-022-06305-3. Epub 2022 Jul 31.

DOI:10.1007/s10072-022-06305-3

PMID:35907985

Abstract

摘要

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Radiographics. 2020 Nov-Dec;40(7):2042-2067. doi: 10.1148/rg.2020200052.

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J Curr Ophthalmol. 2018 Nov 3;31(1):102-105. doi: 10.1016/j.joco.2018.10.003. eCollection 2019 Mar.

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.m.10197G>A 线粒体 DNA 突变的临床和神经影像学特征：新病例报告及表型变异扩展。

J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6.

Mitochondrial DNA mutations in late-onset Leigh syndrome.晚发性 Leigh 综合征中的线粒体 DNA 突变。

J Neurol. 2018 Oct;265(10):2388-2395. doi: 10.1007/s00415-018-9014-5. Epub 2018 Aug 20.

Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.中国首个携带m.10197 G>A突变的Leigh综合征家系中辅酶Q₁₀治疗后的轻微临床表现及异常恢复情况

Mol Med Rep. 2015 Mar;11(3):1956-62. doi: 10.3892/mmr.2014.2911. Epub 2014 Nov 10.

The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.线粒体DNA 10197 G>A突变导致伴有急性听觉失认症的MELAS/Leigh重叠综合征。

Mitochondrial DNA. 2015 Apr;26(2):208-12. doi: 10.3109/19401736.2014.905860. Epub 2014 Apr 8.

A guide to diagnosis and treatment of Leigh syndrome. Leigh 综合征的诊断与治疗指南。

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14.

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.早期脊髓和脑干受累于可能由一种新型变异引起的婴儿型 Leigh 综合征。

J Child Neurol. 2013 Dec;28(12):1681-5. doi: 10.1177/0883073812464273. Epub 2012 Nov 8.

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Extended spinal cord involvement in adult-onset Leigh syndrome due to mitochondrial 10197G > A mutation.

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