1. A sporadic, atypical case of desminopathy: morphological and immunological characterization.
- Author
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Prelle A, Sciacco M, Comi GP, Messina S, Carpo M, Ciscato P, Nobile Orazio E, Fortunato F, Mora G, Bignotti V, Fagiolari G, Moggio M, and Scarlato G
- Subjects
- Adult, Blotting, Western, Cyclin-Dependent Kinase 2, Cyclin-Dependent Kinases metabolism, Humans, Immunohistochemistry, Male, Muscle, Skeletal metabolism, Neuromuscular Diseases metabolism, Protein Serine-Threonine Kinases metabolism, CDC2-CDC28 Kinases, Desmin metabolism, Muscle, Skeletal pathology, Neuromuscular Diseases pathology
- 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.
- Published
- 2000