Table 1.
Sex | SMA type | Number of SMN2 copies | Relative level of FL-SMN transcript | Relative level of Δ7 SMN transcript | FL-SMN/Δ7SMN ratio | |
---|---|---|---|---|---|---|
1 | M | III | 3 | 2.6 | 2.11 | 1.23 |
2 | M | II | 3 | 0.85 | 1.24 | 0.69 |
3 | F | II | 3 | 1.74 | 0.83 | 2.09 |
4 | F | III | 4 | 3.23 | 2.78 | 1.16 |
5 | F | asymptomatic | 4 | 1.39 | 2.48 | 0.56 |
F | carrier | 4 | 1.40 | 2.02 | 0.69 | |
F | control | 2 | 3.25 | 1.05 | 3.10 | |
M | control | 1 | 3.87 | 0.53 | 7.3 |