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

Neuromuscul Disord. 2010 May;20(5):326-9. doi: 10.1016/j.nmd.2010.02.003. Epub 2010 Mar 7.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Calcium-Binding Proteins / metabolism*
  • Calsequestrin / metabolism*
  • Caveolin 3 / metabolism
  • Humans
  • Male
  • Membrane Proteins / metabolism*
  • Microscopy, Electron, Transmission / methods
  • Mixed Function Oxygenases / metabolism*
  • Muscle Proteins / metabolism*
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Muscular Diseases / pathology*
  • Myosin Heavy Chains / metabolism

Substances

  • CAV3 protein, human
  • Calcium-Binding Proteins
  • Calsequestrin
  • Caveolin 3
  • Membrane Proteins
  • Muscle Proteins
  • Mixed Function Oxygenases
  • ASPH protein, human
  • Myosin Heavy Chains