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Article

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

17 Sept 2010

Abstract excerpt

BACKGROUND: In recent years clinical evidence has emphasized the importance of the mtDNA genetic background that hosts a primary pathogenic mutation in the clinical expression of mitochondrial disorders, but little experimental confirmation has been provided. We have analyzed the pathogenic role of a novel homoplasmic mutation (m.15533 A>G) in the cytochrome b (MT-CYB) gene in a patient presenting with lactic...

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PMID: 20862300
DOI: 10.1371/journal.pone.0012801

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