Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study.

Muscle biopsy samples from five patients with cytoplasmic body myopathy (CBM) were investigated by immunohistochemical (antibodies to desmin, actin, dystrophin, spectrin, alpha actinin and utrophin), immunoelectron microscopic (antibodies to desmin, actin and dystrophin) and biochemical (desmin, dystrophin, actin and utrophin western blots) methods. Using immunofluorescence it was shown that the centers of cytoplasmic bodies (CB) were stained by anti-actin, anti-utrophin and three different anti-dystrophin antibodies. The peripheries were labeled by the anti-desmin antibody. Moreover, fibers containing CB showed a markedly increased staining of their entire sarcoplasm with the anti-desmin antibody. Using immunoelectron microscopy it was shown that anti-dystrophin antibodies selectively stained the external limit of the central granular region. Anti-desmin antibody labeled the filamentous halo, and anti-actin antibody stained the central core and the radiating filaments. Biochemical studies showed storage of desmin and dystrophin, both of normal molecular weight. Our results suggest that CBM should be considered along with a wider group of intermediate filament pathologies that include desmin-storage myopathies.