Leiden Muscular Dystrophy pages^©

DMD/BMD deletion/duplication mutations identified in the USA

(last modified August 18, 2005)

Reports from;

Columbus (Ohio)
Houston (Texas)

Columbus

Total

Phenotype	Deletions	Duplications	Total
DMD	306	26	332
BMD	55	3	58
Total	*361*	29	390

Extent of deletions

Exons	Deletions		Duplications
Exons	DMD	BMD	DMD	BMD
1 - 18	1
1 - 20			1
1 - 43	2
2 - 6	4	4	1
2 -7			1
2 - 13	2
2 - 20	1
2 - 27	1
2 - 43		1
3	2
3 - 4	1
3 - 5	1	1
3 - 7			3
3 - 9	1		1
3 - 11	2
3 - 15		1
3 - 16		1
3 - 17	1
3 - 18	1
3 - 19	1
3 - 25	1
3 - 27	1
3 - 33	1
3 - 44	1
4 - 7		1
4 - 44	1
5 - 6	2
5 - 7	2		1
5 - 9	1
5 - 29	1
6 - 7	3		1
6 -19			1
6 - 43	1
8 - 9	2
8 - 11	3		1
8 - 13	2		3
8 - 15			1
8 - 16	1
8 - 17	1
8 - 27	1
8 - 33	1
8 - 42	3
8 - 44	2
8 - 51	1
10 - 17	1
10 - 18	2	1
10 - 19	1
10 - 21	1
10 - 30		1
10 - 39		1
10 - 41	2
10 - 44	1
12	1
12 - 16	1
12 - 19			1
12 - 44	1
13 - 17	2
13 - 29			1
13 - 34		1
13 - 41	1
13 - 48	1
14 - 17	2		1
14 - 27			1	1
16 - 17	1
16 - 27				1
16 - 42		1
16 - 44	1
17			1
17 - 18				1
17 - 43	1
18 - 20	1
18 - 25	1
18 - 27	3
18 - 43	1
18 - 44	1
19 - 21	1
19 - 29		1
19 - 37		1
20 - 27	1
21 - 33		1
22 - 34	1
28 - 43	1
28 - 44		1
29 - 50	1
30 - 57	1
42 - 43	2
43	2
44	11
44 - 48	6
44 - 52	1
45	22
45 - 46		3
45 - 47	12	7
45 - 48	4	3
45 - 49	3	1
45 - 50	10
45 - 51		2
45 - 52	7
45 - 53	3
45 - 54	10
45 - 55		4
46	1		1
46 - 47	8
46 - 48	2
46 - 49	3
46 - 50	5
46 - 51	5
46 - 52	4
46 - 53	2
46 - 54	1
46 - 55	1
47			1
47 - 48		6
47 - 48	1
47 - 49		3
47 - 50	3
47 - 51		1
47 - 52	1
47 - 54	2
48	1
48 - 49	3
48 - 49		1
48 - 50	12
48 - 51		2
48 - 52	8
48 - 53		2
48 - 54	1
49 - 50	9		1
49 - 52	5	1
49 - 54	1
49 - 62	1
50	5		1
50 - 52	4
51	17		1
51 - 53	1
52	5		1
52 - 54	1
53	2
53 - 54	1
53 - 55	2
53 - 60	1
54 - 60	1
54 - 62	1
56	1
57 - 60	1
65 - 79	1

Legend
DMD gene deletion/duplication data determined on DMD/BMD patients in Ohio State University in Columbus, Ohio (Prior & Bridgeman 2005). All mutations have been included in the DMD/BMD deletion/duplication database.

Houston

extent of deletions

Exons	DMD	IMD	BMD	DMD/BMD
1 - 2	1
1 - >40	1
3 - 7		2
6				1
7	1
7 - 12	1
8 - 9				2
8 - 11	1
8 - 20	1
10 - 20		1
20	1
44	2			2
45	2	1		3
45 - 47				2
45 - 48				2
45 - 49			1
45 - 50	3			1
46 - 47	1			1
46 - 48				1
46 - 50	1			1
48 - 49			1
48 - 50	5			2
49 - 50	1			1
50	1			1
51	4

Legend
DMD gene deletion data determined on a set of 160 affected male patients (Baumbach et al. [1989], Houston). Mutations were detected using Southern blotting (HindIII-digests). All mutations have been included in the DMD/BMD deletion/duplication database.