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.