Article
Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.
Neurology - 28 Oct 2003
Pulkes Teeratorn, Liolitsa Danae, Nelson Isabelle P, Hanna Michael G
Abstract excerpt
The authors analyzed the total mitochondrial (mt) genome in 15 patients with classic mitochondrial phenotypes. Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. Total automated mtDNA genome analysis did not reveal other pathogenic mtDNA mutations. The authors conclude that classic mitochondrial phenotypes, including those with adult onset, may occur...
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