Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings

E. Bertini, G. Salviati, F. Apollo, E. Ricci, S. Servidei, A. Broccolini, M. Papacci, P. Tonali

Research output: Contribution to journalArticle

Abstract

We describe clinical, morphological and biochemical findings of a patient with reducing body myopathy (RBM). This 15-year-old patient was affected by severe limb-girdle progressive myopathy with asymmetric distribution. Muscle biopsy showed many fibers with cytoplasmic polymorphic masses, which stained dark purple with modified Gomori's trichrome, associated with proliferation of cytoplasmic bodies. Cytoplasmic polymorphic masses showed marked reducing activity with menadione-nitro blue tetrazolium reaction. Ultrastructurally, there was great amount of highly electron-dense tubular-filamentous structures of 16-17 nm in diameter. Immunohistochemistry showed that many fibers were positive for desmin. Sodium dodecyl sulfate-electrophoresis disclosed an increase in two bands of approximately 53 and 70 kDa, and Western blot demonstrated that the 53-kDa band was desmin. It was not possible to characterize the 70-kDa protein further.

Original languageEnglish
Pages (from-to)106-112
Number of pages7
JournalActa Neuropathologica
Volume87
Issue number1
DOIs
Publication statusPublished - Jan 1994

Keywords

  • Desmin storage peripheral nerves [3, 16, 20]
  • Recuding body myopathy
  • We describe a new condition of desmin storage in a patient with typical reducing body myopathy (RBM)

ASJC Scopus subject areas

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

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    Bertini, E., Salviati, G., Apollo, F., Ricci, E., Servidei, S., Broccolini, A., Papacci, M., & Tonali, P. (1994). Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. Acta Neuropathologica, 87(1), 106-112. https://doi.org/10.1007/BF00386261