(last modified June 9, 2005)
| Phenotype | Deletions | Duplications | Total |
|---|---|---|---|
| DMD | 39 | ? | |
| IMD | 14 | - | |
| BMD | 3 | ? | |
| (B/DMD) | 21 | ||
| Total | 77 | ? | 152 |
| Extent of deletion | BMD | IMD | DMD | B/DMD |
|---|---|---|---|---|
| 4 | 1 | 1 | 1 | |
| 4 - 12 | 1 | |||
| 4 - 17 | 2 | |||
| 4 - 19 | 2 | 1 | ||
| 8 | 1 | |||
| 8 - 17 | 1 | |||
| 8 - 19 | 1 | |||
| 8 - 51 | 2 | |||
| 12 | 1 | |||
| 12 - 44 | 1 | |||
| 17 - 19 | 1 | |||
| 19 | 1 | |||
| 44 | 2 | 2 | ||
| 45 | 1 | 8 | 2 | |
| 45 - 48 | 1 | 1 | 1 | |
| 45 - 51 | 4 | 4 | 2 | |
| 48 | 1 | 1 | 3 | 2 |
| 48 - 51 | 1 | 5 | 1 | |
| 51 | 1 | 3 | 7 | 6 |
Legend
78 deletions (51%) detected in patients from 152 unrelated DMD/BMD families (Elhawary
et al. [2004]). Deletions were detected using Chamberlain multiplex PCR. All
deletions have been included in the DMD/BMD
deletion/duplication database.
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