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Results 1 - 7 of 7 for Mitochondrial complex 4 "deficiency," nuclear type 10
  1. ... 3; MC3DN3 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4 MITOCHONDRIAL ... 30;341(14):1037-44. doi: 10.1056/NEJM199909303411404. Citation on PubMed Benit P, Lebon ...
  2. ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ... RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. Citation ...
  3. ... Carrozzo R. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18. Citation on PubMed
  4. ... 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 ...
  5. ... mitochondrial complex III assembly Tests ... mechanistic rationales to functional consequences. Biochim Biophys Acta. 2013 Nov-Dec;1827(11-12):1320-31. doi: 10.1016/j.bbabio.2012.12.002. Epub 2012 ...
  6. ... I deficiency National Organization for Rare Disorders (NORD) ... the phenotypic spectrum and alters treatment approach. Mol Genet Metab Rep. 2016 Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016. ...
  7. ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME; LS PubMed Ball M, ...