A sporadic, atypical case of desminopathy: morphological and immunological characterization

Autor: 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
Rok vydání: 2000
Předmět:
Zdroj: Clinical neuropathology. 19(4)
ISSN: 0722-5091
Popis: 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.
Databáze: OpenAIRE