Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity. Disease data Classification Disease Synonyms Benign COX deficiency Dziecięcy odwracalny Niedobór oksydazy cytochromu c Łagodny Niedobór COX Miopatia mitochondrialna z odwracalnym niedoborem COX Miopatia mitochondrialna z odwracalnym niedoborem kompleksu IV Infantile reversible cytochrome C oxidase deficiency myopathy Mitochondrial myopathy with reversible COX deficiency Mitochondrial myopathy with reversible complex IV deficiency Reversible infantile cytochrome C oxidase deficiency Reversible infantile respiratory chain deficiency ORPHA code 254864 OMIM code 500009 ICD10 code G71.3 ICD11 code 8C73.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl