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中文Mitochondrial Complex Iv Deficiency, Nuclear Type 6 (MC4DN6)
Alias:
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2
Mc4dn6
Cemcox2
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 2
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 2
Mitochondrial Complex Iv Deficiency Nuclear Type 6
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线粒体复合体IV缺乏症，核型6，也被称为由于细胞色素C氧化酶缺陷2导致的心脑肌病，致命性婴儿型。与线粒体复合体IV缺乏症，核型6相关的重要基因是COX15（细胞色素C氧化酶装配同源物COX15）。相关组织包括大脑，相关表型包括肌张力减退和视网膜病变。
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