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Duchenne Muscular Dystrophy (DMD) stands as the most prevalent and debilitating form of muscular dystrophy, caused by mutations in the dystrophin gene, which is recognized as the largest gene in the human genome. This X-linked recessive disorder is characterized by relentless skeletal muscle degeneration, leading to an early loss of mobility and tragically resulting in premature death due to respiratory or cardiac failure. The dystrophin gene spans approximately 2.2 Mb and produces multiple isoforms through distinct promoters and splicing events, exhibiting tissue-specific expression patterns. Despite advances in molecular diagnostics and understanding of dystrophin’s structural role in maintaining sarcolemmal integrity, effective curative treatments remain unavailable. Recent studies in other neuromuscular disorders have demonstrated the pathogenic potential of repetitive DNA elements, particularly microsatellite expansions, which can disrupt gene function through transcriptional and post-transcriptional mechanisms. Among these, mirror repeats—symmetrical sequences can form non-canonical DNA structures—remain underexplored in relation to DMD. Considering the size and susceptibility to variations in the dystrophin gene, the presence of mirror repeats in its mRNA isoforms could have functional implications related to gene regulation, transcript stability, or mutational hotspots. This study aims to identify and characterized mirror repeats in full-length dystrophin mRNA isoforms to explore their potential role in the pathogenesis or modulation of DMD. The total of 284 mirror repeats is being identified in this study. DNA repeat expansions have been associated with more than 20 genetic neurological disorders. Understanding the contribution of such repeat elements might provide fresh perspectives on the molecular processes underlying dystrophinopathies, which can highlight novel avenues for biomarker development or therapeutic intervention.

Keywords: Duchenne Muscular Dystrophy (DMD), Dystrophin Gene, Mirror Repeats, Neuromuscular Disorders, Gene Regulation.