A sporadic, atypical case of desminopathy: morphological and immunological characterization.
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.
Centro Dino Ferrari, Istituto di Clinica Neurologica, Ospedale Maggiore IRCCS, Milano, Italy.
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Nobile Orazio
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D000328:Adult; D015153:Blotting, Western; D042846:CDC2-CDC28 Kinases; D051357:Cyclin-Dependent Kinase 2; D018844:Cyclin-Dependent Kinases / Q000378:metabolism; D003893:Desmin / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000378:metabolism / Q000473:pathology*; D017346:Protein Serine-Threonine Kinases / Q000378:metabolism
D003893:Desmin; D017346:Protein Serine-Threonine Kinases; D042846:CDC2-CDC28 Kinases; C495894:CDK2 protein, human; D051357:Cyclin-Dependent Kinase 2; D018844:Cyclin-Dependent Kinases