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Mitochondrial complex I deficiency
- Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its ... through which cells derive much of their energy.Mitochondrial complex V deficiency can cause a wide variety of signs and ...
- Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its ... through which cells derive much of their energy.Mitochondrial complex I deficiency can cause a wide variety of signs and ...
- Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, ... for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. ...
- ... Deficiency of acyl-CoA dehydrogenase family member 9 Mitochondrial complex I deficiency due to ACAD9 deficiency Genetic Testing Registry: Acyl- ... I deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 PubMed Aintablian HK, Narayanan ...
- ... IV deficiency COX deficiency Cytochrome-c oxidase deficiency Mitochondrial complex IV deficiency Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to ...
- ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME, NUCLEAR; NULS ...
- ... Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary ...
- ... in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three functions of this enzyme complex. Without enough of this enzyme complex, long-chain ...
- ... which leads to a deficiency of the functional complex in which it plays a part. This deficiency impairs the production of mitochondrial tRNAs. Without enough tRNAs, the mitochondrial synthesis of ...
- ... elongation factor G1 function. As a result, fewer mitochondrial proteins ... phosphorylation deficiency 1 because it impairs the function of more ...
