Here, we sequentially applied MLPA followed by Sanger sequencing (SS) of the DMD gene, or assessed a targeted NGS gene panel that included the DMD gene and 10 selected LGMD-related loci, which yielded a molecular diagnosis in the 80.5% of those cases with suspected muscular dystrophy bearing a previous normal mPCR result. The gene discussed is DMD; the disease is limb-girdle muscular dystrophy.