mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
MONDO:0000066
mitochondrial respiratory chain complex deficiency
is_a
MONDO:0014471
mitochondrial proton-transporting ATP synthase complex deficiency
is_a
ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency
exact
MC5DN3
exact
mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
exact
mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E
exact