Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

<div>Southern blot for mtDNA deletion analysis. The patient’s sample (P) shows an additional band with indistinct margins localizing to a smaller size than the 16 kb expected for intact mtDNA. The indistinct edges of the band represent multiple deletions (compared to lane CP with a single deletion). Patient, P; DNA marker, M; negative controls, CN1-3; positive control with a single deletion, CP; and uncut circular mtDNA control, UC.</div>

Case Reports in Genetics

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Figure 2

Figure 2: Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion 

Figure 2 | Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion 