Article
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
Annals of neurology - 1 Jan 2004
McFarland Robert, Kirby Denise M, Fowler Kerry J, Ohtake Akira, Ryan Michael T, Amor David J, Fletcher Janice M, Dixon Joanne W, Collins Felicity A, Turnbull Douglass M, Taylor Robert W, Thorburn David R
Abstract excerpt
Both nuclear and mitochondrial DNA mutations can cause energy generation disorders. Respiratory chain complex I deficiency is the most common energy generation disorder and a frequent cause of infantile mitochondrial encephalopathies such as Leigh's disease and lethal infantile mitochondrial disease. Most such cases have been assumed to be caused by nuclear gene defects, but recently an increasing number have...
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