Article
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Journal of medical genetics - 1 Jan 2008
Tuppen H A L, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale J E, Olpin S E, Treacy E P, McFarland R, Santorelli F M, Taylor R W
Abstract excerpt
BACKGROUND: Mitochondrial DNA (mtDNA) mutations are important causes of human genetic disease, with mutations in tRNA genes particularly prevalent. In many patients, mutations are heteroplasmic, affecting a population of mtDNA molecules. Establishing the pathogenicity of homoplasmic mitochondrial tRNA (mt-tRNA) mutations, in which the mutation is present in every mtDNA molecule, is extremely difficult. These...
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