Article
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?
Human mutation - 1 Nov 2009
Elson Joanna L, Swalwell Helen, Blakely Emma L, McFarland Robert, Taylor Robert W, Turnbull Doug M
Abstract excerpt
Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations to cause human disease. The majority of mt-tRNA mutations are heteroplasmic and while some exhibit maternal transmission within families, many others are only seen as sporadic mutations. Using the available clinical, biochemical and genetic data from published pathogenic mt-tRNA mutations, we have explored several...
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