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. Author manuscript; available in PMC: 2011 Jul 1.
Published in final edited form as: Muscle Nerve. 2010 Jul;42(1):14–21. doi: 10.1002/mus.21650

Table 1.

Dysferlin mutations in the 21 patients.

Patient Mutation
1 [c.2643+1G>A]+[c.4577A>C]
2 [c.1481-1G>A]+[c.5836_5839del]
3 [c.3892A>G]
4 [c.3843+2T>A]+[c.5698_5699delAG]
5 [c.5497G>T]+[c.5946+1G>A]
6 [c.5509G>A]+[c.5509G>A]
7 [c.610C>T]+[c.1120G>C]
8 [c.3892A>G]
9 [c.353delT]+[c.5444G>T]
10 [c.3065G>A; c.3992G>T]
11 [c.4685dupT]+[c.4685dupT]
12* [c.1392dupA]+[c.3516_3517delTT]
13* [c.1392dupA]+[c.3516_3517delTT]
14 [c.3041A>G]+[c.5526-1G>A]
15* [c.610C>T]+ [c.5884C>T]
16* [c.610C>T]+ [c.5884C>T]
17 [c.5668-7G>A]
18 [c.1120G>C]+[c.5713C>T]
19 [c.855+1delG]+[c.3505insC]
20 [c.3041A>G]+[c.3041A>G]
21 [c.3478C>T]+[c.3478C>T]
*

12, 13 siblings; 15, 16 brothers.

In bold: novel mutations.