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.
|Number of pages||5|
|Publication status||Published - Jul 2000|
- Cyclin-dependent kinases
- Myofibrillar myopathies
ASJC Scopus subject areas
- Clinical Neurology
- Pathology and Forensic Medicine