A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.

Danyu SongXiaona FuLin GeXingzhi ChangCuijie WeiJieyu LiuHaipo YangSuqing QuXinhua BaoTatsushi TodaXiru WuHui Xiong

Published in: Clinical genetics (2020)

The predicted synonymous mutation c.1251G>A of ISPD (NM_001101426.3) is a hot spot causing exon 9 skipping in five patients.

Keyphrases