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Results 1 - 8 of 8 for Mitochondrial complex 1 "deficiency," nuclear type 10
  1. Mitochondrial complex I deficiency 
    ... 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 ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  2. BCS1L gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  3. Cytochrome c oxidase deficiency 
    ... MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9; MC4DN9 MITOCHONDRIAL COMPLEX IV ... oxidase deficiency. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  4. Mitochondrial complex V deficiency 
    ... MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX ... mitochondrial disease. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. Citation ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  5. Mitochondrial complex III deficiency 
    ... Ubiquinone-cytochrome c oxidoreductase deficiency Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 1 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  6. Leigh syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  7. ACAD9 deficiency 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  8. Combined oxidative phosphorylation deficiency 1 
    ... Registry: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ... translation factor EFG1. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21. Citation ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics