By combining RNA sequencing with DNA analysis and immunohistochemistry , this study uncovered hidden pathogenic variants that traditional methods often miss for Duchenne and Becker muscular dystrophy (DMD/BMD) testing. Pan et al. identified splice-altering variants and complex DNA rearrangements in patients with unresolved DMD molecular diagnoses, enabling more precise detection of disease-causing changes. This innovative approach not only improves diagnostic accuracy but also helps guide better therapeutic decisions and clinical trial participation. These findings emphasize the power of RNA sequencing as a complementary tool to enhance genetic testing, ultimately benefiting patients and advancing understanding of muscular dystrophies. (By Dr. Yinghong Pan, https://jmg.bmj.com/content/early/2024/12/11/jmg-2024-110152 )