Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

A. Ognibene, P. Sabatelli, S. Petrini, S. Squarzoni, M. Riccio, S. Santi, M. Villanova, S. Palmeri, L. Merlini, N. M. Maraldi

Research output: Contribution to journalArticlepeer-review


Ultrastructural alterations in the nuclear architecture were found in skeletal muscle and skin cultured cells from a patient affected by X-inked Emery-Dreifuss muscular dystrophy (EMD) carrying a null mutation. The molecular defect of X-linked EMD is the absence of emerin, a nuclear envelope-associated protein which is considered a component of the nuclear lamina. The nuclear changes were present in skeletal muscle and skin cultured cells with a frequency of about 10% and 18%, respectively. The main structures of the nuclear periphery were involved: lamina and nuclear envelope-associated heterochromatin were affected, whereas the cisterna and the pore complexes appeared preserved, and the cytoplasm of the same cells appeared normal. Analogous localized defects were detectable by immunolabeling with antilamin A/C and B2 antibodies, as well as by selective propidium iodide chromatin staining. The lesions we describe could be the result of anomalous nuclear lamina organization in the absence of emerin.

Original languageEnglish
Pages (from-to)864-869
Number of pages6
JournalMuscle and Nerve
Issue number7
Publication statusPublished - 1999


  • Emerin
  • Emery-Dreifuss muscular dystrophy
  • Nuclear lamina
  • X-linked EMD

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


Dive into the research topics of 'Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy'. Together they form a unique fingerprint.

Cite this