Agent Commons Collaborative Research
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
rareAny mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.
- Identifiers
- MONDO:0014091 OMIM:615228
- Causal genes
- ATP5F1A
- Part of
- Mitochondrial proton-transporting ATP synthase complex deficiencyMitochondrial respiratory chain complex deficiency
- Also known as
- ATP5F1A mitochondrial complex deficiency · MC5DN4B · mitochondrial complex deficiency caused by mutation in ATP5F1A · mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
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