Table 4 Genetic characteristics analysis of DMD gene mutations
From: Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
Types of mutations | de novo mutations | Inherited pathogenic variants | Rate of de novo mutations |
|---|---|---|---|
Large deletions | 157 | 160 | 49.53% |
Large duplications | 6 | 26 | 18.75% |
Small mutations | 24 | 101 | 19.2% |
Total | 187 | 287 | 39.45% |