Integrated genome analysis of COX deficiency in Japan

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Cytochrome c oxidase (COX) deficiency is a genetically heterozygous mitochondrial disease characterized by myopathy, encephalopathy and cardiomyopathy. Defects of nuclear genes as well mitochondrial (mt) genes cause this disease. However, the mutation frequencies of the causative genes have largely unknown in Japan. To evaluate mutations of nuclear genes in COX deficiency more extensively, we conducted exome sequencing in Japanese patients. A total of 58 unrelated patients with COX deficiency were recruited from collaborative universities and hospitals in Japan.

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