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Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
rareAny mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
- Identifiers
- MONDO:0013547 OMIM:614053
- Causal genes
- ATP5F1E
- Part of
- Mitochondrial proton-transporting ATP synthase complex deficiencyMitochondrial respiratory chain complex deficiency
- Also known as
- ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency · MC5DN3 · mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E
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