Table 2.
Single Fiber Mutation Load Data
| Percentage mutation load | ||||||
|---|---|---|---|---|---|---|
| Patient | mt-tRNA mutation | COX-positive fibers | COX-deficient fibers | P value | ||
| 2 | m.5541C>T | 51.4 ± 28.1 | 90.0 ± 2.7 | 0.0003 | ||
| 3 | m.5690A>G | 27.9 ± 31.3 | 86.8 ± 18.3 | <0.0001 | ||
| 4 | m.7451A>T | 14.6 ± 25.1 | 97.4 ± 3.8 | <0.0001 | ||
| 5 | m.7554G>A | 17.5 ± 13.2 | 94.0 ± 8.7 | <0.0001 | ||
| 7 | m.12206C>T | 73.8 ± 31.8 | 97.1 ± 1.5 | 0.0391 | ||
| 8 | m.12317T>C | 31.1 ± 32.4 | 87.7 ± 8.3 | <0.0001 | ||
| 9 | m.16023G>A | 60.1 ± 25.3 | 86.9 ± 11.3 | 0.0005 | ||
The percentage mutation load in individual COX-positive and COX-deficient fibers from the seven patients investigated (plus or minus the standard deviation) is shown. All novel mt-tRNA variants showed significant segregation with the biochemical defect (P values) at the 95% confidence level.