Leiden Muscular Dystrophy pages

Deletion mutations in DMD/BMD identified in Argentina

(last modified July 3, 2004)


Below an overview of the deletions that have been detected in the DMD-gene in DMD and BMD patients in Argentina. The changes have been contributed by F. Giliberto (full address). All deletions have been included in the DMD/BMD deletion/duplication database.


Totals

In total 174 unrelated patients were screened; 84 (48%) contained deletions. 

Phenotype Deletions Duplications No detectable
deletion
Total
DMD 76  (46%)   99 165
IMD 1   0 1
BMD 7  (88%)   1 8
Total 84  (48%) -   174

Extent of deletions


Deletion DMD
patients
BMD
patients
IMD
patients
1 - 19 1    
3 - 5 1    
3 - 12 1 1  
(3 ?) 8 - 12 1    
3 - 13 (16 ?) 1    
3 - 17 1    
3 - 19 4   1
(2?) 3 - 19 (42?) 1    
3 - 43 1    
4 - 18   1  
8 2    
8 - 11 1    
8 - 13 1    
8 - 17 1    
(7? ) 8 - 17 (18 ?) 1    
8 - 42 1    
8 - 43 1    
11 - 17 1    
(10 ?) 12 - 19 1    
12 - 44 1    
13 - 17 1    
(14? -) 17 (-18?) 1    
17 - 19 1    
(9?) 17 - 19 (43?) 1    
18 - 19 (42 ?) 1    
(18? -) 19-21 (-42?) 1    
18 - 25 1    
(20 ?) 41 - 43 1    
41 - 43 1    
42 - 43 1    
(20?) 43 - 51 (59?) 1    
44 2    
45 4    
45 (-46?) 1    
45 - 47   3  
45 - 50 1    
45 - 51 (59?) 1    
45 - 52 (59?) 1    
45 - 68 1    
46 - 48 2    
46 - 50 3    
46 - 51 1    
47 - 48 1    
(46?) 47 - 48 (49?) 1    
(46?) 47 - 50 1    
(46?) 47 - 51 (59?) 1    
48 2 1  
48 - 49   1  
48 - 50 1    
48 - 52 1    
48 - 52 (59?) 1    
48 - 61 1    
49 1    
49 - 50 3    
49 (- 79?) 1    
(48?) 50 1    
(49?) 50 1    
50 1    
50 - 52 1    
51 4    
51 - 53 1    
51 - 57 1    
52 2    
61 (-79 ?) 1    

Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Argentina. Deletions were detected using multiplex PCR (Set I: exons 8, 17, 44 and 48; Set II: exons 19, 45, 51 and 52; Set III: exons Pm, 3, 4 and 13; Set IV: exons 43, 47, 50 and 60), based on the 18-exon Chamberlain and Beggs sets. In cases where no deletion was detected, exons 6, 42, 53 and 79 were PCR-ed individually. Once a deletion was found, single-exon amplications were
carried out to determine the exons deleted (Giliberto et al., 2004). Some of the deletions haven been published (Giliberto et al., 2004), others have been submitted directly to the database. All deletions have been included in the DMD/BMD deletion/duplication database.



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