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Deletion/duplication mutations identified in the DMD gene Denmark

(last modified February 11, 2005)

Totals

In total 182 DMD/BMD-patients and 14 potential carriers were analysed (Schwartz & Duno, 2004). All mutations have not been added to the DMD deletion/duplication database.

Phenotype	Deletions	Duplications	Point mutation	No detectable deletion	LGMD-2I	Total
B/DMD	87	14	4	66	11	182
females	7	0	0	7	-	14
Total	94	14	4	73	11	196

Extent of deletions / duplications

Exons	Deletion	Duplication
1 - 9		1
2		1
3 - 4		2
3 - 5	1
3 - 11	1
3 - 12	1
3 - 13	2
3 - 16	1
3 - 23	1
3 - 38	1
3 - 44	1
4 - 7	2
4 - 17	1
5 - 7	1	2
5 - 33	1
8		1
8 - 11	1	1
8 - 13		1
8 - 17	2
8 - 42	1
8 - 9	1
10 - 29	1
13	1
13 - 44	1
14 - 21	1
16	1
16 - 19	2
18 - 19		1
18 - 29	1
18 - 36	1
18 - 44	1
22 - 23		1
33 - 43	1
37 - 43	1
38 - 43	1
41 - 43	1
42 - 50		1
44	3	2
44 - 48	1
45	7
45 - 47	7
45 - 48	4
45 - 49	5
45 - 50	4
45 - 52	3
45 - 53	2
45 - 55	1
46 - 47	2
46 - 48	1
46 - 50	3
46 - 51	4
46 - 52	1
46 - 53	1
46 - 55	2
47 - 50	1
48	1
48 - 50	2
48 - 51	1
48 - 52	1
48 - 54	1
49 - 50	3
49 - 52	2
50		1
50 - 79	2
51	2
51 - 55		1
52	3
52 - 53	1
53	1
53 - 55	1
61 - 67	1

Legend
123 deletions and duplications identified in a detailed analysis of 182 DMD/BMD-patients and 14 potential carriers from Copenhagen (Schwartz & Duno, 2004). Changes were detected using MLPA-analysis. All mutations have not been added to the DMD deletion/duplication database.

Leiden Muscular Dystrophy pagesŠ

Deletion/duplication mutations identified in the DMD gene Denmark

Totals

Extent of deletions / duplications

Leiden Muscular Dystrophy pages^Š