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

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• 作者：Claudia Di Blasi ; Flavia Blasevich ; Emanuela Bellafiore ; Elisa Mottarelli ; Sara Gibertini ; Simona Zanotti ; Simona Saredi ; Renato Mantegazza ; Lucia Mor ; i ; Marina Mora
• 关键词：Nemaline rods ; Crystalloid inclusions ; Calsequestrin ; Junctin ; Caveolin 3
• 刊名：Neuromuscular Disorders
• 出版年：2010
• 出版时间：May 2010
• 年：2010
• 卷：20
• 期：5
• 页码：326-329
• 全文大小：597 K

文摘

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.