(last modified July 30, 2003)
In total 51 patients were screened; 24 (47%) contained deletions while 27 (53%) contained no detectable deletion. All mutations have been included in the DMD/BMD deletion/duplication database.
| Phenotype | Deletions | Duplications | No detectable deletion |
Total |
|---|---|---|---|---|
| DMD | 22 | ? | 27 | |
| BMD | 2 | ? | ||
| Total | 24 | ? | 27 | 51 |
| deleted exons | in DMD | in BMD |
|---|---|---|
| (1- ?) 3 - 43 | 1 | |
| (9- ?) 12-13 (-16 ?) | 1 | |
| (9- ?) 12-19 (-42 ?) | 1 | |
| (20- ?) 43 | 1 | |
| 45 (-46 ?) | 1 | |
| 45 - 47 | 1 | 1 |
| 45 - 48 (-49 ?) | 1 | |
| 45 - 51 | 1 | |
| 45 - 52 (-59 ?) | 3 | |
| (46- ?) 47 | 1 | |
| (46- ?) 47 - 52 (-59 ?) | 1 | |
| 48 - 50 | 2 | |
| (49- ?) 50 | 1 | |
| 51 | 3 | |
| 51 - 52 (-59 ?) | 1 | |
| 52 (-59 ?) | 1 | |
| (53- ?) 60 (-79 ?) | 2 |
Legend
24 deletions detected in 51 patients analysed (47%). Deletions detected using multiplex
PCR, i.e. 18-exon Chamberlain and Beggs sets. Reported by P.
Rocco et al., ICHG-meeting 2001, Wien, Abstract P1497. Eur.J.Hum.Genet. 9:
394-395 (E-mail: procco@genes.bio.puc.cl).
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