Figure 3
From: Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
Histological, immunochemical and molecular studies. (A) Immunohistochemistry showing mild and irregular reduction of caveolin 3 and absence of cavin-1 (Bar = 20 μm); (B) Gomori trichrome staining showing mild histopathologic changes (Bar = 20 μm); (C) immunoblot showing absence of the band corresponding to cavin-1; (D) electropherograms showing homozygous single bp deletion in the patient, present in a single copy in both parents.