The most significantly upregulated and downregulated miRNAs in MM were observed to be hsa-miR-191-5p (4.80 logFC) and hsa-miR-155-5p (− 4.69 logFC), respectively, whereas the most significantly upregulated and downregulated DEGs were TNFRSF17 (4.91 logFC) and DEFB1 (− 4.56 logFC), respectively (Table 1; Table S6 and S7 in Supplementary File 1). The gene discussed is DEFB1; the disease is Miyoshi myopathy.