Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 7-Day Trial for You or Your Team.

Learn More →

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

Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy Ultrastructural alterations in the nuclear architecture were found in skeletal muscle and skin cultured cells from a patient affected by X‐linked 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. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 864–869, 1999 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Muscle and Nerve Wiley

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

Download PDF
6 pages

Loading next page...
 
/lp/wiley/nuclear-changes-in-a-case-of-x-linked-emery-dreifuss-muscular-wrtNJRH4xU

References (17)

Publisher
Wiley
Copyright
Copyright © 1999 John Wiley & Sons, Inc.
ISSN
0148-639X
eISSN
1097-4598
DOI
10.1002/(SICI)1097-4598(199907)22:7<864::AID-MUS8>3.0.CO;2-G
Publisher site
See Article on Publisher Site

Abstract

Ultrastructural alterations in the nuclear architecture were found in skeletal muscle and skin cultured cells from a patient affected by X‐linked 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. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 864–869, 1999

Journal

Muscle and Nerve – Wiley

Published: Jul 1, 1999

There are no references for this article.