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.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
AARS2 combined oxidative phosphorylation deficiency
exact
COXPD8
exact
combined oxidative phosphorylation deficiency 8
related
combined oxidative phosphorylation deficiency caused by mutation in AARS2
exact
combined oxidative phosphorylation deficiency type 8
exact
SPAC23C11.09