Figure 2

CAV3 mutations cause a severe decrease in Cav-3 expression and membrane localization. (a) Frozen sections of the skeletal muscle biopsy from one representative patient (Pt) and an age-matched control (C) were prepared and immunostained with specific antibodies against caveolin-3 (Cav-3). In control muscle Cav-3 displays a uniform pattern at the sarcolemma. In the patient, Cav-3 is markedly reduced. Final magnification, × 40. (b) Protein lysates prepared from the skeletal muscle biopsy from one patient (Pt) and an age-matched control (C) were separated by SDS-PAGE and subjected to western immunoblot analysis using antibodies against Cav-3. In the patient Cav-3 protein levels are reduced by approximately 80%. Modified and reproduced by Traverso et al.⁴⁷