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Results 1 - 8 of 8 for Mitochondrial complex 4 "deficiency," nuclear type 10
  1. Mitochondrial complex III deficiency 
    ... 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 ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  2. 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
  3. Mitochondrial complex V deficiency 
    ... 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
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  4. Cytochrome c oxidase deficiency 
    ... 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 ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  5. 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
  6. 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
  7. Leigh syndrome 
    ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME, NUCLEAR; NULS PubMed Ball ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  8. SDHA gene 
    ... SDH1 SDH2 SDHF succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial succinate dehydrogenase complex flavoprotein ... gastrointestinal stromal tumors. Front Oncol. 2013 May 17;3:117. doi: 10.3389/fonc.2013.00117. eCollection 2013. Citation on ...
    https://medlineplus.gov/genetics/gene/sdha - Genetics