Results 11 to 20 of about 283,904 (171)

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy [PDF]

Folia Neuropathologica, 2016
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk, Andrzej Kochański   +1 more
doaj   +4 more sources

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles).
So‐mi Kang, Ran Kim, Tae‐Gyun Woo, Soyoung Park, Yeongseon Ji, Ha Eun Kim, Yu Jin Jeong, Jeongmo Kim, Yeonhee Kim, Woochul Chang, Bae‐Hoon Kim, Bum‐Joon Park   +11 more
doaj   +3 more sources

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Folia Neuropathologica, 2017
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined.
Irena Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel, Irena Hausmanowa-Petrusewicz   +4 more
doaj   +2 more sources

Emery-Dreifuss muscular dystrophy [PDF]

European Journal of Human Genetics, 2002
Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and ...
Gisele Bonne, Anne Helbling-Leclerc
exaly   +3 more sources

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy [PDF]

Case Reports in Genetics, 2020
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li   +8 more
doaj   +2 more sources

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation [PDF]

Journal of Physiological Sciences, 2023
Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +2 more sources

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy [PDF]

Cardiology Research and Practice, 2021
Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects.
Michał Marchel, Agnieszka Madej-Pilarczyk, Agata Tymińska, Roman Steckiewicz, Janusz Kochanowski, Julia Wysińska, Ewa Ostrowska, Paweł Balsam, Marcin Grabowski, Grzegorz Opolski   +9 more
doaj   +2 more sources

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy [PDF]

Indian Journal of Radiology and Imaging
Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited syndrome that affects muscles, joints, and the heart. The classic clinical triad includes early joint contractures, slowly progressive muscle weakness, and cardiac abnormalities.
Basavaraj Biradar, Jineesh Valakkada, Anoop Ayyappan, Ajay Alex   +3 more
doaj   +2 more sources

Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report

Arquivos de Neuro-Psiquiatria, 2006
A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras ...
Ana Lucila Moreira Carsten, Paulo José Lorenzoni, Rosana Herminia Scola, Lineu César Werneck   +3 more
doaj   +2 more sources

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts [PDF]

Cells
Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD, LMNA, SYNE1, SYNE2, and other related genes. The disease is characterized by joint contractures, muscle weakening and wasting, and heart conduction defects associated with dilated ...
Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo, Silvia Bonanno, Paola Cavalcante, Federico Corradi, Daniela Benati, Giorgia Farinazzo, Marco Cattaneo, Veronica De Sanctis, Roberto Bertorelli, Lorenzo Maggi, Melania Giannotta, Antonella Pini, Gaetano Vattemi, Denise Cassandrini, Marco Cavallo, Cristina Manferdini, Gina Lisignoli, Beatrice Fontana, Ilaria Pace, Claudio Bruno, Roberta Roncarati, Chiara Fiorillo, Manuela Ferracin, Eric C. Schirmer, Alessandra Recchia, Giovanna Lattanzi   +28 more
doaj   +2 more sources