DMD mutation | Exon to skip | Resulting in-frame BMD mutation | Number of patients |
---|---|---|---|
Deletion exon 10–21 | 22 | Deletion exon 10–22 | 1 |
Deletion exon 30–43 | 44 | Deletion exon 30–44 | 2 |
Deletion exon 46–47 | 45 | Deletion exon 45–47 | 25 |
Deletion exon 46–48 | Deletion exon 45–48 | 8 | |
Deletion exon 46–49 | Deletion exon 45–49 | 4 | |
Deletion exon 46–53 | Deletion exon 45–53* | 2 | |
Deletion exon 46–55 | Deletion exon 45–55* | 5 | |
Deletion exon 50 | 51 | Deletion exon 50–51 | 1 |
Deletion exon 45–52 | 53 | Deletion exon 45–53* | 2 |
Deletion exon 45–54 | 55 | Deletion exon 45–55* | 5 |
*Mutation is mentioned twice, because it could be the result of skipping of two different exons.
DMD/BMD, Duchenne/Becker muscular dystrophy