Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study (original) (raw)

Summary

The clinical, morphological and biochemical findings of a sporadic case, showing accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in agreement with those of Rappaport et al. (FEBS Lett. 231:421–425, 1989). A sensory-motor polyneuropathy was established by electrophysiological studies and, ultrastructurally, intramuscular nerves showed accumulation of neurofilaments and neurotubules with formation of axonal spheroids. These findings are discussed considering all previous reports with related conditions.

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Authors and Affiliations

  1. Department of Neuropediatrics, Bambino Gesu' Hospital, P.za S. Onofrio, 4, I-00165, Rome, Italy
    E. Bertini
  2. Department of Pathology, Bambino Gesu' Hospital, P.za S. Onofrio, 4, I-00165, Rome, Italy
    R. Boldrini
  3. Human Biopathology Department, University “La Sapienza”, Rome, Italy
    C. Bosman
  4. Neurological Institute, Catholic University and UILDM Sez. Laziale, Rome, Italy
    E. Ricci, S. Servidei & M. Sabatelli
  5. NRC Unit for Muscle Biology and Physiopathology c/o Institute of General Pathology, University of Padova, Padova, Italy
    G. Salviati

Authors

  1. E. Bertini
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  2. C. Bosman
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  3. E. Ricci
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  4. S. Servidei
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  5. R. Boldrini
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  6. M. Sabatelli
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  7. G. Salviati
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Supported by the National Ministry of Health (Ricerca corrente cod. 88/02/P/73B), UILDM sez. Laziale and Institutional funds of the Consiglio Nazionale delle Ricerche and Grant from MPI and MDA

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Bertini, E., Bosman, C., Ricci, E. et al. Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.Acta Neuropathol 81, 632–640 (1991). https://doi.org/10.1007/BF00296373

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