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Deletion mutations in DMD/BMD identified in the Filipines

(last modified July 30, 2003)

Totals

In total 35 patients were screened; 11 (31%) contained deletions while 24 (69%) contained no detectable deletion. All mutations have been included in the DMD/BMD deletion/duplication database.

Phenotype Deletions Duplications No detectable
deletion		 Total
DMD/BMD 11 ? 24  
Total 11 ? 24 35

Extent of deletions

deleted exons

DMD / BMD
patient

(?2)  3 - 11

1

(?2)  3 - 7

1

8 - 12

1
8 - 19  (?42) 1
11 - 13  (?16)  1
12 - 19  (?42) 1
12 - 13  (?16) 1
44 - 52  (?59) 1
45 - 50 1
46 - 48 1
49 - 51 1

Legend
11 deletions detected in 35 Filipino patients analysed. Deletions detected using 21-multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets and PCR for exons 7, 11, 46 and 49. Reported by EM Cutiongco et al., ASHG-meeting 2002, Am.J.Hum.Genet. 71: S546 [Abstract 2206]). Part of patients described in EM Cutiongco et al., (1995) Am.J.Med.Genet. 59: 266-267.

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