Table 6 Distribution of dystrophin gene mutation types in the study population
Dystrophin gene mutation type | Total (N = 81) | DMD (N = 20) | BMD (N = 61) | p-value |
|---|---|---|---|---|
Deletions affecting the amino-terminal domain, n (%) | 11 (14) | 1 (5) | 10 (16) | 0.28 |
Deletions affecting exons 45–49, n (%) | 30 (37) | 1 (5) | 29 (48) | <0.001 |
Deletions affecting exons 50 and/or 51, n (%) | 15 (19) | 8 (40) | 7 (12) | 0.008 |
Duplication, n (%) | 11 (14) | 4 (20) | 7 (12) | 0.45 |
Point mutation, n (%) | 4 (5) | 2 (10) | 2 (3) | 0.25 |
Other, n (%) | 10 (12) | 4 (20) | 6 (10) | 0.25 |