Figure 4
From: Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis
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).