Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

Ann Neurol. 1988 Oct;24(4):576-80. doi: 10.1002/ana.410240416.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Cell Nucleus / ultrastructure*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Microscopy, Electron
  • Muscular Diseases / etiology
  • Muscular Diseases / pathology*
  • Sjogren's Syndrome / complications
  • Sjogren's Syndrome / pathology*