Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy

Claudia Di Blasi, Flavia Blasevich, Emanuela Bellafiore, Elisa Mottarelli, Sara Gibertini, Simona Zanotti, Simona Saredi, Renato Mantegazza, Lucia Morandi, Marina Mora

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a patient with muscle pain not associated with muscle weakness. Microscopic examination of the muscle biopsy revealed rod-like cytoplasmic bodies in many fast fibres. By electron microscopy these had a crystalloid structure identical to the hexagonally cross-linked caveolin 3-positive tubular arrays, previously described in patients with similarly benign myopathy. We found that these inclusions were positive for calsequestrin and for the calsequestrin-binding protein junctin, as well as for caveolin 3. However, the genes coding for these proteins were not mutated. For diagnostic purposes calsequestrin and caveolin 3 positivity should be checked when rods are encountered in muscle biopsy for mild myopathy.

Original languageEnglish
Pages (from-to)326-329
Number of pages4
JournalNeuromuscular Disorders
Volume20
Issue number5
DOIs
Publication statusPublished - May 2010

Keywords

  • Calsequestrin
  • Caveolin 3
  • Crystalloid inclusions
  • Junctin
  • Nemaline rods

ASJC Scopus subject areas

  • Genetics(clinical)
  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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