Isolated cytochrome C oxidase deficiency

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Isolated cytochrome C oxidase deficiency

Synonyms: Isolated COX deficiency | Isolated mitochondrial respiratory chain complex IV deficiency

A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype including a benign infantile mitochondrial type affecting mainly the skeletal muscle a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart Leigh syndrome which causes severe early-onset progressive and fatal encephalopathy and French-Canadian type Leigh syndrome which affects mostly the skeletal muscle but also brain and liver.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Isolated cytochrome C oxidase deficiency?

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Clinical Trials

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