New pathomechanism and the application of the treatment for Fukuyama-type congenital muscular dystrophy

1、我们发现FCMD是由SVA反转录酶插入的致病性外显子捕获引起的剪接异常引起的。2、在FCMD中也检测到异常的fukarin蛋白。3、在FCMD模型小鼠中发现了同样的异常剪接模式。4采用硫代磷酸连接的2 '-O-甲基RNA（2' OMePS）和Morpholino寡核苷酸设计了几个25 mer的AON，以寻找最佳靶序列。

1, We revealed that FCMD is caused by splicing abnormality which is induced by pathogenic exon trapping of SVA retrotransposal insertion. 2, We also detected the abnormal fukutin protein in FCMD. 3, We checked that the same abnormal splicing pattern was seen in FCMD model mice. 4 We adopted phosphorothioate-linked 2'-O-methyl RNA (2'OMePS) and Morpholino oligonucleotides to design several 25 mer AONs to search the best target sequences.