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Mitochondrial complex 1 "deficiency," nuclear type 2
- ... 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 ...
- ... 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; ...
- ... 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 ...
- ... 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 ...
- ... mitochondrial complex III assembly Tests of BCS1L PubMed MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ...
- ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME, NUCLEAR; NULS PubMed Ball ...
- ... elongation factor G1 function. As a result, fewer mitochondrial proteins ... phosphorylation deficiency 1 because it impairs the function of more than ...
- ... SDH1 SDH2 SDHF succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial succinate dehydrogenase complex flavoprotein ... Belinsky MG, Rink L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front ...
- Birth Defects/Reference Desk ... Birth Defects ... Genetic Counseling/Reference Desk ... Genetic Counseling ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy