Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy

C. Di Blasi, L. Morandi, M. Raffaele Di Barletta, S. Bione, P. Bernasconi, M. Cerletti, R. Bono, F. Blasevich, D. Toniolo, M. Mora

Research output: Contribution to journalArticlepeer-review


We report on a patient with the typical clinical findings of Emery-Dreifuss muscular dystrophy due to a mutation in the emerin gene that should have produced a higher molecular weight protein. Immunohistochemical analysis showed emerin localized only in the cytoplasm of muscle fibres and lymphoblastoid cells. The emerin molecule contained the nucleoplasmic domain and the transmembrane domain responsible for nuclear membrane targeting, so its incorrect localization and lack of function could be due to abnormal folding resulting in rapid degradation or inability to bind other nuclear proteins. (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)567-571
Number of pages5
JournalNeuromuscular Disorders
Issue number8
Publication statusPublished - 2000


  • Emerin
  • Emery-Dreifuss muscular dystrophy
  • Immunohistochemistry
  • Nuclear membrane protein

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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