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Multiple mtDNA deletions are detected by next generation sequencing (NGS). (a) NGS coverage profile suggests the presence of multiple mtDNA deletions, as described previously [12]. Further alignment of mismatched junction sequences identified multiple breakpoints; at least one possible 5´ deletion breakpoint (b) and two possible 3´ deletion breakpoints [(c) and (d)] were confirmed by Sanger sequencing (Additional file 1: Figure S1).
