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"Cytochrome-c" oxidase deficiency disease
- ... dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic ...
- ... MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition MedlinePlus Genetics provides information about Cytochrome c oxidase deficiency More About This Health Condition More than 80 ...
- ... in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which is a condition that can affect ... or the liver.The mitochondrial genes associated with cytochrome c oxidase deficiency provide instructions for making proteins that are ...
- ... Leigh syndrome.Disruption of complex IV, also called cytochrome c oxidase or COX, is also a common cause of ... J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys ...
- ... M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009 Nov;132(Pt 11): ... Muntoni F, Poulton J. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet. 2011 Oct;48(10):660- ...