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Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy.

作者信息

Eckenweiler M, Catarino C B, Gallenmueller C, Klopstock T, Lagrèze W A, Korinthenberg R, Kirschner J

机构信息

Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany.

Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany.

出版信息

J Neurol. 2015 Dec;262(12):2776-9. doi: 10.1007/s00415-015-7955-5. Epub 2015 Nov 3.

DOI:10.1007/s00415-015-7955-5
PMID:26530508
Abstract
摘要

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Case Rep Ophthalmol. 2024 Nov 13;15(1):852-858. doi: 10.1159/000542202. eCollection 2024 Jan-Dec.
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Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C.由罕见的线粒体 ND6 突变 m.14487T>C 引起的进行性肌阵挛癫痫
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本文引用的文献

1
Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.双胞胎患者的血液、肌肉、尿路上皮和毛囊中线粒体 DNA 异质性存在近乎完全的分离现象，这些患者患有视神经萎缩、眼睑下垂和难治性癫痫。
JAMA Neurol. 2013 Dec;70(12):1552-5. doi: 10.1001/jamaneurol.2013.4111.
2
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.严重婴儿 Leigh 综合征与罕见的线粒体 ND6 突变 m.14487T>C 相关。
Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27.
3
Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe.
胃癌细胞系和组织中MTND5基因常见体细胞突变的研究。
Mitochondrial DNA B Resour. 2018 Aug 29;3(2):1002-1008. doi: 10.1080/23802359.2018.1501287.
4
Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency.线粒体缺陷中与线粒体疾病相关的 ND6 突变的系统分析。
Mol Genet Genomic Med. 2020 May;8(5):e1199. doi: 10.1002/mgg3.1199. Epub 2020 Mar 12.
5
Idebenone: A Review in Leber's Hereditary Optic Neuropathy.依地苯醌：治疗莱伯遗传性视神经病变的研究进展。
Drugs. 2016 May;76(7):805-13. doi: 10.1007/s40265-016-0574-3.
欧洲Leber遗传性视神经病变线粒体DNA突变患病率的Meta分析。
Eur J Ophthalmol. 2012 May-Jun;22(3):461-5. doi: 10.5301/ejo.5000055.
4
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.随机安慰剂对照试验伊地苯醌治疗莱伯遗传性视神经病变。
Brain. 2011 Sep;134(Pt 9):2677-86. doi: 10.1093/brain/awr170. Epub 2011 Jul 25.
5
Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.线粒体DNA-ND6基因T14487C突变所致青少年 Leigh 综合征、视神经萎缩、共济失调、肌张力障碍和癫痫：一种从出生到青春期出现的线粒体综合征
J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31.
6
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.进行性肌阵挛性癫痫作为 Leigh 综合征的成人发病型表现，其病因是 m.14487T>C。
J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3. doi: 10.1136/jnnp.2008.157354.
7
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.双侧纹状体坏死与线粒体ND6基因的新突变相关。
Ann Neurol. 2003 Oct;54(4):527-30. doi: 10.1002/ana.10682.
8
The epidemiology of Leber hereditary optic neuropathy in the North East of England.英格兰东北部Leber遗传性视神经病变的流行病学
Am J Hum Genet. 2003 Feb;72(2):333-9. doi: 10.1086/346066. Epub 2002 Jan 7.
9
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.患有Leber遗传性视神经病变的多代家系中的原发性致病性线粒体DNA突变。
Am J Hum Genet. 1996 Aug;59(2):481-5.
10
A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.一种线粒体DNA突变作为莱伯遗传性视神经病变的病因。
N Engl J Med. 1989 May 18;320(20):1300-5. doi: 10.1056/NEJM198905183202002.