Results 71 to 80 of about 285,170 (145)

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy

American Journal of Perinatology Reports, 2016
Introduction Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects.
Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada   +9 more
doaj   +1 more source

Cardiac involvement in Emery-Dreifuss muscular dystrophy.

, 2005
Emery-Dreifuss muscular dystrophy (EDMD) is a common form of muscular dystrophy frequently involving cardiac muscle, thus leading to dilated cardiomyopathy.
Wessely, R;Seidl, S;Schömig, A
core   +1 more source

Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

پزشکی بالینی ابن سینا, 2004
Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah, Abdolrasool Javan, Behdad Nadimi, Mehrdad Rezaei, Behrouz Yazdanpanah, Hamdollah Delaviz   +5 more
doaj  

The empowerment of translational research: lessons from laminopathies

Orphanet Journal of Rare Diseases, 2012
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara, Bernasconi Pia, Bertini Enrico, Biagini Elena, Boriani Giuseppe, Capanni Cristina, Carboni Nicola, Cenacchi Giovanna, Columbaro Marta, D'Adamo Monica, D’Amico Adele, D’Apice Maria, Fontana Marianna, Gambineri Alessandra, Lattanzi Giovanna, Liguori Rocco, Maraldi Nadir M, Mazzanti Laura, Mercuri Eugenio, Mongini Tiziana, Morandi Lucia O, Neri Iria, Nigro Giovanni, Novelli Giuseppe, Ortolani Michela, Pasquali Renato, Pini Antonella, Petrini Stefania, Politano Luisa, Previtali Stefano, Pucci Lisa, Rapezzi Claudio, Ricci Giulia, Rodolico Carmelo, Sbraccia Paolo, Scarano Emanuela, Siciliano Gabriele, Squarzoni Stefano, Toscano Antonio, Vercelli Liliana, Ziacchi Matteo   +40 more
doaj   +1 more source

Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cells

Cell Death and Disease
During myogenic differentiation, the Microtubule-Organizing Center (MTOC) is relocated to the nuclear envelope by a molecular platform including Linker of Nucleoskeleton and Cytoskeleton (LINC) complex proteins, A Kinase Anchoring Proteins (AKAP9 and ...
Elisabetta Mattioli, Vittoria Cenni, Patrizia Sabatelli, Elisa Schena, Spartaco Santi, Chiara Fiorillo, Claudio Bruno, Antonella Pini, Melania Giannotta, Marco Cavallo, Costantino Errani, Eleonora Cattin, Daniela Benati, Alessandra Recchia, Giovanna Lattanzi   +14 more
doaj   +1 more source

Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy - A case report

, 2002
WOS: 000173800200016PubMed ID: 11863303A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first ...
San, M, Demirtas, M, Kanadasi, M, Guzel, R, Tuncer, I   +4 more
core   +2 more sources

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

The effects of overexpression of lamin a and two mutants associated with premature aging on stem cell differentiation and proliferation. [PDF]

, 2007
The nuclear lamina is composed of A and B-type lamins and performs a number of functions within the nucleus. Mutations within lamins give rise to a group of diseases called laminopathies including autosomal dominant Emery-Dreifuss muscular dystrophy and ...
Gibbs-Seymour, Ian
core  

In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation

Case Reports in Anesthesiology, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary neuromuscular disorder characterized by slowly progressive muscle weakness, early contractures, and dilated cardiomyopathy.
Frank Schuster, Carsten Wessig, Christoph Schimmer, Stephan Johannsen, Marc Lazarus, Ivan Aleksic, Rainer Leyh, Norbert Roewer   +7 more
doaj   +1 more source

Emery-Dreifuss Humeroperoneal Muscular Dystrophy: cardiac manifestations

, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by muscular atrophy, contractures, and cardiomyopathy with conduction defects. It can be X-linked or autosomal.
Parmar, Kamalpreet S., Parmar, Malvinder S.   +1 more
core   +1 more source