Send to

Choose Destination
See comment in PubMed Commons below
J Neurol Sci. 2003 Jun 15;210(1-2):47-51.

Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD.

Author information

Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 1a, Banacha Str. bld. D, 02-097 Warsaw, Poland.



The aim of our study was to compare the ultrastructure of myonuclei in both forms of Emery-Dreifuss dystrophy (EDMD)-X-linked and dominantly autosomally transmitted. The muscle biopsies were taken from rectus femoris in four X-linked EDMD cases and three ADEDMD cases.


The biopsies were evaluated using immunocytochemical staining to establish emerin or A/C lamins deficiency. The muscle ultrastructure, especially that of nuclei, was analysed to find out whether there are differences between the two forms of EDMD.


In both forms of EDMD, there was an aberrant nuclear architecture. In the X-linked form, the breakdown of fragile nuclear membrane and presence of nucleoplasm extrusion were a distinct feature. In the AD from, there was chromatin reorganization and loss of nucleoplasm volume.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center