Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080970 | Neuromuscular Disorders | 2010 | 4 Pages |
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.
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Authors
Claudia Di Blasi, Flavia Blasevich, Emanuela Bellafiore, Elisa Mottarelli, Sara Gibertini, Simona Zanotti, Simona Saredi, Renato Mantegazza, Lucia Morandi, Marina Mora,