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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

✍ Scribed by Robert McFarland; Denise M. Kirby; Kerry J. Fowler; Akira Ohtake; Michael T. Ryan; David J. Amor; Janice M. Fletcher; Joanne W. Dixon; Felicity A. Collins; Douglass M. Turnbull; Robert W. Taylor; David R. Thorburn

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 226 KB
Volume: 55
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10787

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## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor