Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Definition
Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
Also known as ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency, MC5DN3, mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E — per MONDO