Finally, two novel DISVs and a rare exonic splice-altering variant, i.e., an aberrant splicing event induced by a predicted nonsense variant, were first identified in SGCB. Furthermore, we also identified a novel non-canonical splicing variant in SGCB. The three patients harboring the pathogenic compound heterozygous variants in SGCB were eventually diagnosed with beta-sarcoglycanopathy. This evidence concerns the gene SGCB and qualitative or quantitative defects of beta-sarcoglycan.