Article
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Annals of neurology - 1 May 2015
Gorman Gráinne S, Schaefer Andrew M, Ng Yi, Gomez Nicholas, Blakely Emma L, Alston Charlotte L, Feeney Catherine, Horvath Rita, Yu-Wai-Man Patrick, Chinnery Patrick F, Taylor Robert W, Turnbull Douglass M, McFarland Robert
Abstract excerpt
OBJECTIVE: The prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of mitochondrial disease has expanded significantly since the original reports that associated classic clinical syndromes with mitochondrial DNA (mtDNA) rearrangements and point mutations. The revolution in genetic technologies has allowed...
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