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Mitochondrial complex 4 "deficiency," nuclear type 4
- ... III deficiency nuclear type 3 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 4 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
- ... 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 ...
- ... 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
- ... Legrand A, Benit P, Rustin P, Slama A. Mitochondrial complex I deficiency of nuclear ... J Bioenerg Biomembr. 2014 Aug;46(4):323-8. doi: 10.1007/s10863-014-9564- ...
- ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME, NUCLEAR; NULS PubMed Ball ...
- ... I deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 PubMed Aintablian HK, Narayanan V, Belnap ...
- ... mitochondrial complex III assembly Tests of BCS1L PubMed MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE ...
- ... 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