Term Name: | COX deficiency, infantile mitochondrial myopathy |
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Synonyms: | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, fatal infantile COX deficiency, fatal infantile cytochrome C oxidase deficiency, fatal infantile encephalocardiomyopathy |
Definition: | A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. |
Ontology: | Human Disease [DOID:0050713] ( DOID:0050713 ) |