Table 1.
Details of phenotype, deletion size, and heteroplasmy level in adult patients investigated in this study. Deletion size in gel and NGS is based on both urine and muscle when available
| Patient | Gender | Age | Phenotype | Detectable urine | Available muscle studied in parallel | Deletion size gel | Deletion size NGS | Heteroplasmy urine | Heteroplasmy muscle | Δ Heteroplasmy | Time (years) from muscle sampling to urinary sample |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 43 | PEO | Yes | Yes | ~ 7140 bp | 7156 bp | 84% | 87% | 3% | 0 |
| 2 | F | 57 | PEO | No | Yes | ~ 4000 bp* | 4407 bp | 33% | 49% | 16% | 0 |
| 3 | F | 54 | PEO | Yes | Yes | ~ 5‐6000 bp | Not performed | 8% | 39% | 31% | 0 |
| 4 | F | 17 | PEO | Yes | Yes | ~ 5500 bp | 5800 bp | 45% | 74% | 29% | 0 |
| 5 | M | 54 | PEO | No | Yes | ~ 4500 bp* | 4851 bp* | 26% | 56% | 30% | 13 |
| 6 | F | 59 | PEO | Yes | No | ~ 7390 bp | 7386 bp | Not performed | Not available | Not available | 18 |
| 7 | F | 56 | PEO | Yes | Yes | ~ 4500 bp | 4977 bp | 20% | 75% | 55% | 0 |
| 8 | F | 30 | PEO | Yes | Yes | ~ 4500 bp | 4977 bp | 18% | 12% | −6% | 10 |
| 9 | F | 24 | PEO | Yes | Yes | ~ 4500 bp | Not performed | 74% | 94% | 20% | 0 |
| 10 | M | 32 | PEO | Yes | Yes | ~ 4500 bp | 4977 bp | 28% | 36% | 8% | 1 |
| 11 | F | 22 | PEO | Yes | No | ~ 8140 bp | 8284 bp | Not performed | 12% | Not available | 0 |
The size marked with asterix (*) indicates that it is not detectable in urine, and is therefore based on muscle findings.
F, female; M, male; NGS, next‐generation sequencing; PEO, progressive external ophthalmoplegia.