Coenzyme Q cytochrome c reductase deficiency of
Overview
Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
Symptoms
* Leber's myopathy * Cardiomyopathy * Progressive weakness of eye muscles * Tubulopathy * Encephalopathy