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.
|Titolo:||A sporadic, atypical case of desminopathy: morphological and immunological characterization|
SCARLATO, GUGLIELMO (Ultimo)
|Parole Chiave:||Cyclin-dependent kinases; Desmin; Desminopathy; Myofibrillar myopathies|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2000|
|Appare nelle tipologie:||01 - Articolo su periodico|