title: Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy.
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.
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, C. Besta National Neurological and Foundation, Via Temolo 4, 20126 Milan, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Di Blasi
authors.forename: Flavia
authors.initials: F
authors.lastname: Blasevich
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bellafiore
authors.forename: Elisa
authors.initials: E
authors.lastname: Mottarelli
authors.forename: Sara
authors.initials: S
authors.lastname: Gibertini
authors.forename: Simona
authors.initials: S
authors.lastname: Zanotti
authors.forename: Simona
authors.initials: S
authors.lastname: Saredi
authors.forename: Renato
authors.initials: R
authors.lastname: Mantegazza
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000378:metabolism*; D002155:Calsequestrin / Q000378:metabolism*; D051244:Caveolin 3 / Q000378:metabolism; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D046529:Microscopy, Electron, Transmission / Q000379:methods; D006899:Mixed Function Oxygenases / Q000378:metabolism*; D009124:Muscle Proteins / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology*; D018995:Myosin Heavy Chains / Q000378:metabolism
chemical_list: C417736:CAV3 protein, human; D002135:Calcium-Binding Proteins; D002155:Calsequestrin; D051244:Caveolin 3; D008565:Membrane Proteins; D009124:Muscle Proteins; D006899:Mixed Function Oxygenases; C419389:ASPH protein, human; D018995:Myosin Heavy Chains