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Abstract.Sensorineural deafness associated with increased sensitivity to aminoglycoside antibiotics as the consequence of an A1555G mutation in the mitochondrial DNA (mtDNA) in a highly conserved region of the small (12S) rRNA gene has been reported in Caucasian, Chinese, and Japanese individuals. We report here a large family of Balinese Indonesian origin with progressive/congenital sensorineural...
Abstract We have investigated the genetics of the length heteroplasmy associated with the T16189C variant of mitochondrial DNA (mtDNA), and report here definitive evidence that the pattern of the length heteroplasmy is not simply the outcome of drift related to the random segregation of the mtDNA population during cell division, but is actively maintained and regenerated de novo following each cell...
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