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

E. Bertini, C. Bosman, E. Ricci, S. Servidei, R. Boldrini, M. Sabatelli, G. Salviati

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)632-640
Number of pages9
JournalActa Neuropathologica
Volume81
Issue number6
DOIs
Publication statusPublished - May 1991

Keywords

  • Cardiomyopathy
  • Cytoplasmic bodies
  • Desmin
  • Neurofilaments
  • Polyneuropathy

ASJC Scopus subject areas

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

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