Recently, abnormal expression of cyclin-dependent kinases was proposed as a possible cause of desminopathy. We describe an atypical case clinically characterized by severe respiratory distress. Muscle biopsy showed subsarcolemmal and intracytoplasmic accumulation areas, which intensively stained with anti-desmin antibodies and contained electrondense filamentous material at ultrastructural level. WB analysis showed 30% increased desmin signal compared to controls. Positive immunostain for CDC2 kinase, CDK2 and emerin and nuclear matrix-associated protein were, found in desmin-positive fibres.
A sporadic, atypical case of desminopathy: morphological and immunological characterization / A. Prelle, M. Sciacco, G.P. Comi, S. Messina, M. Carpo, P. Ciscato, E. Nobile Orazio, F. Fortunato, G. Mora, V. Bignotti, G. Fagiolari, M. Moggio, G. Scarlato. - In: CLINICAL NEUROPATHOLOGY. - ISSN 0722-5091. - 19:4(2000), pp. 208-12-212.
A sporadic, atypical case of desminopathy: morphological and immunological characterization
G.P. Comi;M. Carpo;E. Nobile Orazio;F. Fortunato;G. ScarlatoUltimo
2000
Abstract
Recently, abnormal expression of cyclin-dependent kinases was proposed as a possible cause of desminopathy. We describe an atypical case clinically characterized by severe respiratory distress. Muscle biopsy showed subsarcolemmal and intracytoplasmic accumulation areas, which intensively stained with anti-desmin antibodies and contained electrondense filamentous material at ultrastructural level. WB analysis showed 30% increased desmin signal compared to controls. Positive immunostain for CDC2 kinase, CDK2 and emerin and nuclear matrix-associated protein were, found in desmin-positive fibres.
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