Abstract
Dystrophinopathies are neuromuscular diseases caused by pathogenic variants in DMD gene, and comprised, mostly, by Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Three independent, tissue-specific promoters, located at the 5' end of DMD gene, are responsible for the production of the long dystrophin isoforms (Dp427m, Dp427p and Dp427c), while four internal promoter…