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Results 1 - 8 of 8 for Mitochondrial complex 1 "deficiency," nuclear type 2
  1. Mitochondrial complex III deficiency 
    ... Testing Registry: Mitochondrial complex III deficiency nuclear type 1 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 2 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  2. Cytochrome c oxidase deficiency 
    ... ClinicalTrials.gov MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; MC4DN2 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  3. Mitochondrial complex V deficiency 
    ... MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR ...
    https://medlineplus.gov/.../mitochondrial-complex-v-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. BCS1L gene 
    ... mitochondrial complex III assembly Tests of BCS1L PubMed MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  6. 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
  7. Combined oxidative phosphorylation deficiency 1 
    ... elongation factor G1 function. As a result, fewer mitochondrial proteins ... phosphorylation deficiency 1 because it impairs the function of more than ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  8. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genetic Counseling/Reference Desk ... Genetic Counseling ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genes and ...
    https://www.genome.gov/genetics-glossary - External Health Links