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Decreased activity of mitochondrial respiratory chain
- ... Munnich A, Rustin P, Rotig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. ... in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16( ...
- ... Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. ...
- ... DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). While most people with Leigh syndrome ...