Immunofluorescence studies of vastus lateralis muscle of patient 3 showed typical alterations to proteins involved in muscular dystrophy: an absence of dystrophin using DYS2 and DYS3, as well as an absence of SGCA (α-sarcoglycan) and SGCB (β-sarcoglycan), and residual staining with DYS1, SGCG (γ-sarcoglycan), and SGCD (δ-sarcoglycan) antibodies. This evidence concerns the gene SGCB and muscular dystrophy.