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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)208-212
Number of pages5
JournalClinical Neuropathology
Issue number4
Publication statusPublished - Jul 2000


  • Cyclin-dependent kinases
  • Desmin
  • Desminopathy
  • Myofibrillar myopathies

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)


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