Table 5.
Exon Deletion for Patients With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
5′ Hot Spot (Exons 3-19) | 3′ Hot Spot (Exons 42-60) | Spanning From 5′ to 3′ Hot Spots | Other | |
---|---|---|---|---|
Duchenne muscular dystrophy | Del 2-17 (2) | Del 43 | Del 3-43 | Del 63-79 |
Del 3a | Del 44 | Del 12-43a | ||
Del 5-7 | Del 45 (2) | |||
Del 7 | Del 45-50 (2) | |||
Del 8-9 | Del 46-47 | |||
Del 10-19b | Del 46-48 (2) | |||
Del 46-49 | ||||
Del 46-51 | ||||
Del 48-50 (3) | ||||
Del 49-52 | ||||
Del 50 | ||||
Del 53 | ||||
Del 55-60 | ||||
Del 56-57a,b | ||||
(n = 7) | (n = 19) | (n = 2) | (n = 1) | |
Becker muscular dystrophy | Del 3a | Del 45-53a | ||
Del 3-5 (3)a | Del 49-52 | |||
Del 3-6 | Del 52-53a | |||
(n = 5) | (n = 3) |
Abbreviations: n, number of patient for each subgroup; ( ), number of patients with the same deletion.
aIn-frame mutation by prediction.
bMutations that have not been reported in the literature.