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Up to: Combined oxidative phosphorylation deficiency
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
This condition has no sub-types.