Table 1 Frequency of different DMD mutations in 1051 families with DMD/BMD
From: Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
Type of mutation | Number of families with DMD(n = 1003) | Number of families with BMD(n = 26) | Total(n = 1051) |
|---|---|---|---|
Deletion | 721 (71.88%) | 19 (73.08%) | 740 (70.41%) |
Duplication | 86 (8.57%) | 1 (3.85%) | 87 (8.28%) |
Deletion and duplication | 0 (0%) | 1 (3.85%) | 1 (0.10%) |
Small mutation | 196 (19.54%) | 5 (19.23%) | 201 (19.12%) |