Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.
作者信息
van Goethem G, Löfgren A, Martin J J, van Broeckhoven C
出版信息
J Med Genet. 2000 Jul;37(7):547-8. doi: 10.1136/jmg.37.7.547.
Abstract
摘要
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Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.线粒体DNA多处缺失累积的常染色体显性疾病遗传异质性的进一步证据。
J Med Genet. 2000 Jul;37(7):547-8. doi: 10.1136/jmg.37.7.547.
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A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.第三个与常染色体显性遗传性进行性眼外肌麻痹中线粒体DNA多片段缺失相关的基因座。
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[Autosomal dominant chronic progressive external ophthalmoplegia].[常染色体显性慢性进行性眼外肌麻痹]
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Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes.
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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.常染色体显性进行性眼外肌麻痹中线粒体DNA的克隆性扩增及多个缺失
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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.POLG基因的突变与以线粒体DNA缺失为特征的进行性眼外肌麻痹相关。
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[Multiple mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO)].[慢性进行性眼外肌麻痹（CPEO）中的多个线粒体DNA缺失]
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Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.进行性眼外肌麻痹和多重线粒体DNA缺失
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POS5 gene of Saccharomyces cerevisiae encodes a mitochondrial NADH kinase required for stability of mitochondrial DNA.酿酒酵母的POS5基因编码一种线粒体NADH激酶，该激酶是线粒体DNA稳定性所必需的。
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Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.以线粒体DNA多处缺失为特征的进行性眼外肌麻痹：揭示人类线粒体DNA不稳定性的发病机制及启动遗传分类。
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