Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) |
| Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
| Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency Infantile reversible cytochrome C oxidase deficiency myopathy Reversible infantile respiratory chain deficiency Benign COX (cytochrome C oxidase) deficiency Reversible infantile cytochrome C oxidase deficiency Mitochondrial myopathy with reversible complex IV deficiency
|
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of 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. |
| mitochondriale myopathie met reversibele cytochroom-c-oxidasedeficiëntie |
| mitochondriale myopathie met reversibele deficiëntie van cytochroom-c-oxidase
|