Novel and previously known pathogenic mitochondrial DNA variants found in 28 Dutch children and young adults
| Synonymous substitutions | Non-synonymous substitutions | Substitutions in rRNA or tRNA genes | |
|---|---|---|---|
| NA, not applicable. | |||
| *Three children with definite pathogenic mutations were included in the sample set to examine the reliability of the conformation-sensitive gel electrophoresis protocol. | |||
| Novel variants | |||
| 4233T→C | 11629A→G | 4681T→C | 686A→G |
| 6665C→T | 12924A→G | 9891T→C | |
| 7954T→C | 13608T→C | 14122A→G | |
| 8065G→A | 13671A→G | ||
| 9657C→T | |||
| Pathogenic variants | |||
| NA | 3460G→A | 3243A→G* | |
| 8993T→G* | 7497G→A* | ||