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Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

作者信息

Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Meitinger T, Meire F, Cochaux P, Blankenagel A, Kommerell G

出版信息

Am J Hum Genet. 1994 Nov;55(5):1063-6.

PMID:7977345
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1918326/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7fc/1918326/9cd564e6b233/ajhg00044-0213-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7fc/1918326/9cd564e6b233/ajhg00044-0213-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7fc/1918326/9cd564e6b233/ajhg00044-0213-a.jpg

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1
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.欧洲家族性及散发性Leber遗传性视神经病变病例中线粒体DNA突变模式的特征
Am J Hum Genet. 1994 Nov;55(5):1063-6.
2
High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.日本Leber遗传性视神经病变家系中线粒体ND4基因突变的高频率。
Jpn J Ophthalmol. 1992;36(1):56-61.
3
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.
4
Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.一例散发性Leber遗传性视神经病变的分子遗传学分析
Am J Hum Genet. 1992 Feb;50(2):443-6.
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On the many faces of Leber hereditary optic neuropathy.关于Leber遗传性视神经病变的多种表现
Clin Genet. 1997 Jun;51(6):388-93. doi: 10.1111/j.1399-0004.1997.tb02496.x.
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mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.与脊椎骨骺发育不良相关的Leber遗传性视神经病变的线粒体DNA分析
Am J Med Genet. 2001 May 1;100(3):219-22. doi: 10.1002/ajmg.1264.
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Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?Leber遗传性视神经病变：异质性是否会影响线粒体DNA G11778A突变的遗传和表达？
Am J Med Genet. 2001 Jan 22;98(3):235-43. doi: 10.1002/1096-8628(20010122)98:3<235::aid-ajmg1086>3.0.co;2-o.
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When does bilateral optic atrophy become Leber hereditary optic neuropathy?双侧视神经萎缩何时会转变为Leber遗传性视神经病变？
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Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.一个患有Leber遗传性视神经病变的意大利家族中的线粒体DNA突变。
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Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.线粒体基因组在伴有Leber遗传性视神经视网膜病变的异质性谱系中的分离
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Treatment of hereditary optic neuropathies.遗传性视神经病变的治疗。
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Do haplogroups H and U act to increase the penetrance of Alzheimer's disease?单倍群H和U是否会增加阿尔茨海默病的外显率？

本文引用的文献

1
LEBER'S DISEASE IN THE NETHERLANDS.荷兰的利伯病
Doc Ophthalmol. 1963;17:1-162. doi: 10.1007/BF00573524.
2
The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees.Leber遗传性视神经病变的双位点控制及在日本家系中的高外显率
Hum Genet. 1993 May;91(4):339-41. doi: 10.1007/BF00217353.
3
Leber's hereditary optic neuropathy. New genetic considerations.莱伯遗传性视神经病变。新的遗传学考量。
Cell Mol Neurobiol. 2007 May;27(3):329-34. doi: 10.1007/s10571-006-9126-9. Epub 2006 Dec 21.
4
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.903个疑似Leber遗传性视神经病变的中国家系中线粒体DNA突变的分子流行病学研究
J Hum Genet. 2006;51(10):851-856. doi: 10.1007/s10038-006-0032-2. Epub 2006 Sep 14.
5
Mitochondrial D-loop variation in Persian multiple sclerosis patients: K and A haplogroups as a risk factor!!波斯多发性硬化症患者线粒体D环变异：K和A单倍群作为危险因素！！
Cell Mol Neurobiol. 2006 Mar;26(2):119-25. doi: 10.1007/s10571-006-9026-z. Epub 2006 May 6.
6
Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma.日本开角型青光眼患者中与Leber遗传性视神经病变相关的线粒体DNA突变
Jpn J Ophthalmol. 2006 Mar-Apr;50(2):128-34. doi: 10.1007/s10384-005-0290-0.
7
Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome.
Mol Cell Biochem. 1997 Sep;174(1-2):209-13.
8
Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.所谓继发性Leber遗传性视神经病变突变的疾病相关性。
Am J Hum Genet. 1997 Jun;60(6):1539-42. doi: 10.1016/S0002-9297(07)64248-7.
9
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.携带线粒体DNA谱系上11778或14484突变的白种人Leber遗传性视神经病变患者的聚类分析
Am J Hum Genet. 1997 Feb;60(2):381-7.
10
Characterization of basal ganglia dysfunction in Leber 'plus' disease.
J Neurol. 1996 Mar;243(3):297-300. doi: 10.1007/BF00868531.
Arch Neurol. 1993 May;50(5):540-8. doi: 10.1001/archneur.1993.00540050082021.
4
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.莱伯遗传性视神经病变。14484突变的临床表现。
Arch Ophthalmol. 1993 Apr;111(4):495-8. doi: 10.1001/archopht.1993.01090040087038.
5
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.莱伯遗传性视神经病变：线粒体细胞色素b基因突变的病因学作用
Genetics. 1993 Jan;133(1):133-6. doi: 10.1093/genetics/133.1.133.
6
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON).对芬兰患有Leber遗传性视神经视网膜病变（LHON）的家族中视神经萎缩易感基因与X染色体标记物之间连锁关系的重新评估。
Am J Hum Genet. 1993 Jul;53(1):289-92.
7
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.Leber遗传性视神经病变中的细胞色素c氧化酶突变
Biochem Biophys Res Commun. 1993 Oct 29;196(2):810-5. doi: 10.1006/bbrc.1993.2321.
8
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees.莱伯遗传性视神经视网膜病变，一种母系遗传疾病。对四个家系的系谱研究。
Arch Ophthalmol. 1987 May;105(5):665-71. doi: 10.1001/archopht.1987.01060050083043.
9
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。
Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.
10
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.Leber遗传性视神经病变中的遗传异质性和线粒体DNA异质性
J Med Genet. 1989 Dec;26(12):739-43. doi: 10.1136/jmg.26.12.739.