title: Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome.
abstract: We have investigated 3 children aged 6, 3, and 2 years, from 2 families, with the clinical features of Marinesco-Sjögren syndrome. Muscle biopsy specimens from all 3 were abnormal and showed small vacuoles and slight variation in fiber size. Electron microscopy revealed vacuolation and membranous whorls and, in particular, a unique dense membranous structure associated with nuclei. These cases emphasize the involvement of muscle in Marinesco-Sjögren syndrome and the importance of electron microscopy in differential diagnosis.
authors.affiliation: Jerry Lewis Muscle Research Centre, Royal Postgraduate Medical School, London, UK.
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
mesh_terms: D001706:Biopsy; D002467:Cell Nucleus / Q000648:ultrastructure*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009135:Muscular Diseases / Q000209:etiology / Q000473:pathology*; D012859:Sjogren's Syndrome / Q000150:complications / Q000473:pathology*