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A) Sequence of the mitochondrial tRNALeu (UUR) gene in DNA isolated from the patient’s muscle. The arrow indicates the m.3244G>A transition. B) Schematic representation of the tRNALeu (UUR) cloverleaf structure showing the mutation reported here. C) Evolutionary conservation of the tRNALeu (UUR) DHU loop. The grey box shows the strict degree of conservancy of the sequences in this position in different eukaryotic species. The m.3244G>A transition is shown in bold.
