cytochrome-c oxidase deficiency disease

Description

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.; Reason: duplicate. This will be merged with MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type