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Petter Schandl Sanaker and Laurence A. Bindoff MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations Human Mutation 34

Version of Record online: 4 JAN 2013 | DOI: 10.1002/humu.22238

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A maternally inherited, heteroplasmic MT-ND5 mutation, m.13271T>C, causes mitochondrial myopathy in a young female patient. Single myoblast clones harbored only mutated or only wild type mtDNA, indicating possible intercellular heteroplasmy for this mutation. This, in turn, may underlie the extreme shifts in mutation load seen, as the mutation appeared not to be transmitted from the patient to her child. Intercellular heteroplasmy, if present, accentuates the effect of the genetic bottleneck and further complicates genetic counseling for mtDNA diseases.

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