Disease - Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Definition
An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle.
Acronym
CEMCOX2
Keywords
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