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Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
rareAny mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
- Identifiers
- MONDO:0011421 OMIM:604273
- Causal genes
- ATPAF2
- Part of
- Mitochondrial proton-transporting ATP synthase complex deficiencyMitochondrial respiratory chain complex deficiency
- Also known as
- ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency · Complex 5 mitochondrial respiratory chain deficiency · MC5DN1 · mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2
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