A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy

Dystrophinopathies, caused by pathogenic DMD variants, include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, X-linked dilated cardiomyopathy, and female dystrophinopathy [1]. Genetic therapy is a promising treatment given the monogenetic nature of DMD, but it requires the precise identification of pathogenic variants in the DMD gene. As approximately 97 ∼99% of pathogenic DMD variants are in DMD exons and/or their flanking intronic regions, they can be detected by routine exome analysis of genomic DNA [2,3].

Source: Neuromuscular Disorders - December 19, 2023 Category: Neurology Authors: Zhiying Xie, Chengyue Sun, Chang Liu, Yanyu Lu, Bin Chen, Rui Wu, Yanru Liu, Ran Liu, Qing Peng, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Wei Zhang, Yun Yuan Tags: Case report Source Type: research