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Deletion mutations in DMD/BMD identified in Hungary

(last modified July 9, 2003)

Totals

In total 159 patients were screened; 116 (73%) contained deletions while 43 (27%) contained no detectable deletion.

Phenotype Deletions Duplications No detectable
deletion		 Total
DMD/BMD 116 ? 43  
Total 116 ? 43 159

Extent of deletions

deleted exons

DMD / BMD
patient
2 - 6

2
3 - 13

1
3 - 17

1
3 - 19 1
3 - 44 1
4 - 44 1
6 2
8 1
8 - 13 1
8 - 17 2
12 1
12 - 13

2
13 - 17

2
17 - 19

1
17 - 43 2
19 3
19 - 45 1
43 - 44 1
44 2
44 - 45 1
44 - 49 1
45 8
45 - 47 5
45 - 48 1
45 - 49 3
45 -50 6
45 - 51 2
45 - 52 5
47 5
47 - 48 4
47 - 50 1
47 - 51 1
47 - 52 7
48 - 50 5
48 - 51 3
48 - 52 2
49 - 50 1
49 - 52 1
50 8
50 - 52 6
51 4
51 - 52 5
52 3

Legend
116 deletions detected in 159 Hungarian DMD/BMD patients (Herczegfalvi et al. [1999]). Deletions were detected using PCR. The mutations have been included in the DMD/BMD deletion/duplication database.

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