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Results 1 - 7 of 7 for Mitochondrial complex 3 "deficiency," nuclear type 10
  1. ... ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; ... of mitochondrial disease. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. Citation ...
  2. ... III deficiency nuclear type 2 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 3 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
  3. ... 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 ...
  4. ... fatal infantile, due to cytochrome c oxidase deficiency 3 Genetic Testing Registry: Cardioencephalomyopathy, fatal ... COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE ...
  5. ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF ... disorder, more than 75 monogenic causes. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15. Citation ...
  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. ... den Heuvel LP. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1. ...