Combined oxidative phosphorylation defect type 8

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

Also known as: AARS2 combined oxidative phosphorylation deficiency, COXPD8, combined oxidative phosphorylation deficiency caused by mutation in AARS2, combined oxidative phosphorylation deficiency type 8, cardiomyopathy, hypertrophic mitochondrial, fatal infantile, combined oxidative phosphorylation deficiency 8

13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation defect type 8 itself.