SGCB and sarcoglycanopathy: In conclusion, we successfully identified three novel intronic and one exonic splice-altering variants in SGCB via the combination of muscle-derived mRNA studies and genomic Sanger sequencing, which is the first identification of rare exonic and DISVs in SGCB. Our study expands the clinical and genetic spectrum of β-sarcoglycanopathy and indicates that intronic and exonic splice-altering variants are also important causes of sarcoglycanopathies.