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Combined oxidative phosphorylation defect type 23
- ... COXPD1 Early fatal progressive hepatoencephalopathy Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Genetic Testing Registry: Hepatoencephalopathy due to combined ...
- ... that eye muscles are commonly affected by mitochondrial defects because they are especially ... combined with muscle weakness (encephalomyopathy) and a problem with ...