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Mitochondrial complex 4 "deficiency," nuclear type 12
- ... fatal infantile, due to cytochrome c oxidase deficiency 4 Genetic Testing Registry: Cardioencephalomyopathy, fatal ... MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE ...
- ... mitochondrial complex III assembly Tests of ... by complex III: from mechanistic rationales to functional consequences. Biochim Biophys Acta. 2013 Nov-Dec;1827(11-12):1320-31. doi: 10.1016/j.bbabio.2012. ...
- ... I deficiency National Organization for Rare Disorders (NORD) ... Mol Genet Metab Rep. 2016 Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016.12.005. eCollection 2017 Mar. Citation on PubMed or ...
- ... Genetic Testing Registry: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Mitochondrial complex V deficiency National Organization for Rare Disorders (NORD) ...
- ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME; LS PubMed Lake NJ, ...