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Mitochondrial respiratory chain complex deficiency

MONDO:0000066

A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.

Also known as: isolated oxidative phosphorylation complex disorder, mitochondrial complex deficiency

16 clinical trials for this condition and its sub-types, 4 tagged with Mitochondrial respiratory chain complex deficiency itself.

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Where it sits in the disease tree

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Sub-types of Mitochondrial respiratory chain complex deficiency

Most studied deeper sub-types

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