Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 for Mitochondrial complex 2 "deficiency," nuclear type 3
  1. ... 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; ...
  2. ... 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, ...
  3. ... 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; ...
  4. ... 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 ...
  5. ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME; LS PubMed Ball M, ...
  6. ... 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. ...
  7. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Testing/Reference Desk ... Genetic Testing ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene ...