(last modified February 27, 2004)
In total 30 male patients (ages between 2 and 36.5) with DMD/BMD from 26 unrelated families were scanned for deletions in the DMD gene in the Child Neurology Unit of the Children’s Hospital, University Hospitals, Tartu, Estonia. All mutations have been included in the DMD/BMD deletion/duplication database.
| Phenotype | Deletions | Duplications | Not tested | No detectable deletion |
Total |
|---|---|---|---|---|---|
| DMD | 10 | ? | 2 | 10 | |
| IMD | - | - | - | 1 | |
| BMD | 1 | ? | 1 | 1 | |
| Total | 11 | ? | 3 | 12 | 26 |
| Exons deleted | DMD | IMD | BMD |
|---|---|---|---|
| 3 - 19 (24) | 1 | ||
| (7) 8 - 16 | 1 | ||
| 44 | 2 | ||
| 44 - 51 | 1 | ||
| 45 - 47 | 1 | ||
| (46) 47 - 48 | 1 | ||
| 48 - 50 | 1 | ||
| 48 - 51 | 1 | ||
| 48 - 52 (59) | 1 | ||
| 49 - 50 | 1 | ||
| 49 - 52 (59) | 1 | ||
| 50 | 1 |
Legend
11 deletions detected in 30 patients from 26 DMD/BMD families (Talkop
et al. [1999]; Tiina Talvik, A-Ü Talkop, Andres Piirsoo, Tiina Kahre,
Hiljar Sibul and Aita Napa personal communication). Deletions were detected using multiplex
PCR, i.e. exons Pb, Pm, 3, 4, 6, 8, 12, 13, 16, 17, 19, 25, 32, 34, 41, 42, 43, 44, 45, 47, 48, 50,
51, 52 and 60.
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