Fig. 12

Immunolocalization of extracellular matrix proteins. Serial skeletal muscle cryosections from a myotilinopathy patient (ID1 in Table 1) were double-stained with antibodies recognizing collagen VI, laminin γ1, perlecan, and decorin and either filamin C or myotilin. Nuclei were visualized by DAPI staining. Some abnormal fibers showed an increased immunoreactivity for collagen VI and laminin γ1 in areas of filamin C aggregation and collagen VI also a strong accumulation in some areas with lacking immunoreactivity for filamin C. Immunoreactivities for perlecan and decorin were predominantly increased in areas between and around myotilin-positive aggregates. Scale bar = 50 μm