DMD and neuromuscular disease caused by qualitative or quantitative defects of dystrophin: The perplexing genetic spectrum of dystrophinopathies, as a result of the high genetic complexity of the DMD gene, includes both large-scale copy number variation or structural variants (SVs) and small pathogenic DMD variants, which can occur in coding and/or non-coding regions (Neri et al., 2020; Xie et al., 2020; Waddell et al., 2021; Xie et al., 2021).