COX deficiency, infantile mitochondrial myopathy

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Also known as: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile cytochrome C oxidase deficiency; fatal infantile encephalocardiomyopathy