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Molecular diagnostic methods used in patients with mtDNA pathogenic variants (total 72)
| Methods | Number of cases (%) |
|---|---|
| Targeted mutation analysis | 14 (19.4) |
| Hotspot mutation analysis | 28 (38.9) |
| Long-range PCR for mtDNA deletion | 8 (11.1) |
| Whole mtDNA genome sequencing by NGS | 6 (8.3) |
| Not specified or inadequate documentation | 16 (22.2) |
mtDNA mitochondrial DNA, NGS next generation sequencing, PCR polymerase chain reaction
