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线粒体疾病主要是由线粒体ＤＮＡ(ｍｔＤＮＡ)突变所致 ,部分核基因突变亦可造成线粒体疾病。目前人们所认识的线粒体疾病主要是一些神经肌肉变性疾病 ,如Ｌｅｂｅｒ遗传性视神经病 ,线粒体肌病和脑肌病等。 1981年线粒体基因组测序完成 ,基因功能基本明确[1] ,线粒体ＤＮＡ突?
Mitochondrial diseases are mainly caused by mutations in mitochondrial DNA (mtDNA), and mutations in some of the nuclear genes can also cause mitochondrial diseases. At present, the mitochondrial diseases that people recognize are mainly neuromuscular degenerative diseases such as Leber’s hereditary optic neuropathy, mitochondrial myopathy and encephalomyopathy. Mitochondrial genome sequencing completed in 1981, the basic function of genetically clear [1], mitochondrial DNA mutations?