Table 3.
Mitochondrial mtDNA deletion mutation analysis of ETS abnormal fibers.
Fiber | Phenotype | Breakpoint | Direct Repeat Size (bp) | Deletion Size (bp) |
---|---|---|---|---|
1 | COXneg/SDHhyp | 6116 – 10611 | 4 | 4528 |
2 | COXlow/SDHhyp | 10596 – 16063 | 6 | 5466 |
3 | COXlow/SDHhi | 5047 – 15667 | 4 | 10620 |
4 | COXneg/SDHhyp | 9081 – 14828 | 14 | 5797 |
5 | COXneg/SDHhyp | 9081 – 14828 | 14 | 5797 |
6 | COXneg/SDHhyp | 3323 – 12573 | 6 | 9250 |
7 | COXneg/SDHhyp | 3224 – 10680 | - | 7456 |