A sporadic, atypical case of desminopathy: morphological and immunologicalcharacterization

Recently, abnormal expression of cyclin-dependent kinases was proposed as a possible cause of desminopathy. We describe an atypical case clinically ch aracterized by severe respiratory distress. Muscle biopsy showed subsarcole mmal and intracytoplasmic accumulation areas, which intensively stained wit h anti-desmin antibodies and contained electrondense filamentous material a t ultrastructural level. WE analysis showed 30% increased desmin signal com pared to controls. Positive immunostain for CDC2 kinase, CDK2 and emerin an d nuclear matrix-associated protein were found in desmin-positive fibres.