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A total of 312 suspected MD patients were enrolled into the study. The MLPA combined with a targeted myopathy panel were performed. Patients with negative results were subjected to whole exome sequencing (WES), whole genome sequencing (WGS), and\/or RNA sequencing (RNA-seq). A total of 275 cases were diagnosed as Duchenne\/Becker muscular dystrophy (DMD\/BMD) and 20 cases were other types of myopathy or nonmuscular diseases. Six female DMD\/BMD patients suffered from varying degrees of typical DMD-like symptoms and 2 others were suspected to be gonadal mosaicism. The systematic application of WES, WGS, and\/or RNA-seq highlighted the need for the detection of variants missed by the current standard diagnostic procedures. 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