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cytochrome-c oxidase deficiency disease
Summary
- Synonym
-
- MITOCHONDRIAL COMPLEX IV DEFICIENCY
- Definition
- A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
- Super Class
- mitochondrial metabolism disease
Related Genes
