Table 3. Patients with nonsense mutations in the same exons but with discordant phenotypes.
DMD EXON | FRAME | TOT | DMD | BMD | DMD/BMD | Not Defined | Other | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Nonsense mutations | Patients | Nonsense mutations | Patients | Nonsense mutations | Patients | Nonsense mutations | Patients | Nonsense mutations | Patients | Nonsense mutations | Patients | ||
1 | - | 4 | 35 | 1 | 1 | 3 | 34 | 0 | 0 | 0 | 0 | 0 | 0 |
2 | out | 4 | 5 | 0 | 0 | 3 | 3 | 0 | 0 | 1 | 2 | 0 | 0 |
3 | in | 5 | 16 | 2 | 12 | 2 | 3 | 1 | 1 | 0 | 0 | 0 | 0 |
5 | in | 7 | 18 | 3 | 4 | 1 | 3 | 3 | 11 | 0 | 0 | 0 | 0 |
21 | out | 18 | 44 | 12 | 37 | 1 | 2 | 1 | 1 | 3 | 3 | 1 | 1 |
25 | in | 18 | 58 | 7 | 15 | 6 | 14 | 4 | 27 | 1 | 2 | 0 | 0 |
26 | in | 21 | 48 | 13 | 37 | 1 | 1 | 1 | 1 | 5 | 8 | 1 | 1 |
27 | in | 13 | 19 | 9 | 14 | 2 | 2 | 0 | 0 | 1 | 1 | 1 | 2 |
28 | in | 12 | 24 | 5 | 10 | 2 | 4 | 3 | 8 | 0 | 0 | 2 | 2 |
29 | in | 12 | 57 | 4 | 8 | 4 | 34 | 1 | 10 | 3 | 5 | 0 | 0 |
31 | in | 7 | 12 | 0 | 0 | 4 | 9 | 2 | 2 | 1 | 1 | 0 | 0 |
33 | in | 14 | 32 | 11 | 27 | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 3 |
35 | in | 15 | 55 | 8 | 48 | 3 | 3 | 2 | 2 | 2 | 2 | 0 | 0 |
37 | in | 10 | 39 | 8 | 16 | 2 | 23 | 0 | 0 | 0 | 0 | 0 | 0 |
38 | in | 9 | 34 | 2 | 4 | 3 | 13 | 4 | 17 | 0 | 0 | 0 | 0 |
39 | in | 16 | 65 | 8 | 49 | 2 | 3 | 1 | 5 | 3 | 3 | 2 | 5 |
40 | in | 16 | 34 | 9 | 21 | 1 | 1 | 3 | 6 | 2 | 2 | 1 | 4 |
41 | in | 20 | 76 | 10 | 58 | 1 | 1 | 4 | 11 | 4 | 4 | 1 | 2 |
49 | in | 5 | 10 | 1 | 1 | 1 | 5 | 1 | 1 | 2 | 3 | 0 | 0 |
56 | out | 8 | 11 | 6 | 9 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 |
72 | in | 2 | 10 | 0 | 0 | 1 | 7 | 1 | 3 | 0 | 0 | 0 | 0 |
73 | in | 2 | 2 | 0 | 0 | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 |
74 | in | 10 | 18 | 4 | 5 | 3 | 4 | 2 | 8 | 1 | 1 | 0 | 0 |
75 | out | 8 | 14 | 3 | 7 | 2 | 2 | 1 | 3 | 1 | 1 | 1 | 1 |
76 | out | 6 | 13 | 2 | 6 | 3 | 6 | 1 | 1 | 0 | 0 | 0 | 0 |