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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease mitochondrial complex i deficiency
Comorbidity C0878544|cardiomyopathy
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PubMedID- 21483766 In mitochondrial complex i deficiency with the cardiomyopathy and cataractsphenotype, it has been proposed that significant induction of sod2 may resultfrom a temporarily much elevated superoxide production rate in the presenceof an abnormally reduced redox state, as occurs in anoxia reperfusion injury [29].

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