Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.
作者信息
Howell N, Kubacka I, Halvorson S, Mackey D
出版信息
Genetics. 1993 Jan;133(1):133-6. doi: 10.1093/genetics/133.1.133.
Abstract
摘要
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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
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A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations.一个患有伴有线粒体11778/ND4和4216/ND1突变的Leber遗传性视神经病变的家族。
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mtDNA mutations in Leber's hereditary optic neuropathy.
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Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis.多发性硬化症中与莱伯遗传性视神经病变相关的线粒体DNA突变
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[A Mitochondrial mutation defect is identified in Leber's hereditary optic neuropathy].
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[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene].[一例细胞色素b基因存在新的点突变的Leber视神经病变]
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Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.脑干受累于Leber遗传性视神经病变：与线粒体DNA 14484突变的关联
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Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.莱伯遗传性视神经病变合并肌张力障碍由线粒体DNA点突变引起。
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Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team.古巴的流行性神经病与莱伯遗传性视神经病变患者中发现的线粒体DNA突变无关。古巴神经病学现场调查组。
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Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly.线粒体DNA序列变异与老年人的自由生活活动能量消耗有关。
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Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?莱伯遗传性视神经病变：线粒体DNA突变如何导致视神经变性？
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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。
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Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.单倍型和系统发育分析表明，一种欧洲特有的线粒体DNA背景通过增加原发性突变11778和14484的外显率，在Leber遗传性视神经病变的表达中发挥作用。
Am J Hum Genet. 1997 May;60(5):1107-21.
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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.
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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？
Am J Hum Genet. 1993 Oct;53(4):959-63.
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Mitochondrial DNA sequence variation in human evolution and disease.人类进化与疾病中的线粒体DNA序列变异
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Molecular basis of mitochondrial DNA disease.线粒体DNA疾病的分子基础。
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Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.
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