Article
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
European journal of human genetics : EJHG - 1 Jul 2011
Swalwell Helen, Kirby Denise M, Blakely Emma L, Mitchell Anna, Salemi Renato, Sugiana Canny, Compton Alison G, Tucker Elena J, Ke Bi-Xia, Lamont Phillipa J, Turnbull Douglass M, McFarland Robert, Taylor Robert W, Thorburn David R
Abstract excerpt
Defects of the mitochondrial respiratory chain are associated with a diverse spectrum of clinical phenotypes, and may be caused by mutations in either the nuclear or the mitochondrial genome (mitochondrial DNA (mtDNA)). Isolated complex I deficiency is the most common enzyme defect in mitochondrial disorders, particularly in children in whom family history is often consistent with sporadic or autosomal recessive...
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