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Results 1 - 7 of 7 for Mitochondrial complex 2 "deficiency," nuclear type 3
  1. Mitochondrial complex III deficiency 
    ... 6; MC3DN6 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  2. Mitochondrial complex V deficiency 
    ... MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 PubMed Alston CL, Rocha MC, Lax NZ, ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  3. Cytochrome c oxidase deficiency 
    ... fatal infantile, due to cytochrome c oxidase deficiency 3 Genetic Testing Registry: ... COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; MC4DN2 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  4. Mitochondrial complex I deficiency 
    ... Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1 PubMed Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  5. Leigh syndrome 
    ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ... DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  6. Combined oxidative phosphorylation deficiency 1 
    ... 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. ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  7. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic ...
    https://www.genome.gov/genetics-glossary - External Health Links