Results 21 to 30 of about 8,751 (233)

Genetic investigation of an Iraqi family with Emery-Dreifuss muscular dystrophy

Journal of Rare Diseases
Background Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterized by a distinctive combination of symptoms that affect both the skeletal muscles and the heart.
Mostafa Neissi, Ayoob Radhi Al-Zaalan, Adnan Issa Al-Badran, Javad Mohammadi-Asl   +3 more
doaj   +2 more sources

Emery-Dreifuss muscular dystrophy [PDF]

Muscle and Nerve, 2020
Renata Shih, Peter B Kang
exaly   +5 more sources

X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report. [PDF]

J Int Med Res
This study characterizes a multigenerational family with X-linked Emery-Dreifuss muscular dystrophy associated with a novel FHL1 mutation (c.746G>A, p.Cys249Tyr). Among 21 family members, 5 were affected and 3 had died. The affected individuals exhibited
Zhang H, Tang S, Zhang W, Wang W, Tang W.   +4 more
europepmc   +2 more sources

Emery–Dreifuss muscular dystrophy: a closer look at cardiac complications

European Heart Journal, 2023
Graphical Abstract Graphical Abstract A comparative overview of current guideline-recommended patient pathways vs.
Daria Kramarenko, Roddy Walsh
openaire   +3 more sources

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

Stem Cell Research, 2020
Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p.
Kseniya Perepelina, Polina Klauzen, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Dmitry Rudenko, Mikhail Gordeev, Alexey Sergushichev, Anna Malashicheva, Anna Kostareva   +9 more
doaj   +1 more source

Probing the environment of emerin by Enhanced ascorbate peroxidase 2 (APEX2)-mediated proximity labeling. [PDF]

, 2020
Emerin is one of the best characterized proteins of the inner nuclear membrane, but can also occur at the level of the endoplasmic reticulum. We now use enhanced ascorbate peroxidase 2 (APEX2) to probe the environment of emerin.
James, C., Kehlenbach, R., Lenz, C., Müller, M., Urlaub, H.   +4 more
core   +1 more source

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy

The Turkish Journal of Pediatrics, 2020
Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases.
Hande Tekin, Sanem Yılmaz, Hasan Tekgül, Sarenur Gökben, Gül Aktan   +4 more
doaj   +1 more source

Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

European Heart Journal, 2023
Background and Aims Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and ...
D. Cannie, P. Syrris, A. Protonotarios, A. Bakalakos, J. Pruny, R. Ditaranto, Cristina Martínez-Veira, J. Larrañaga-Moreira, Kristen Medo, F. Bermúdez-Jiménez, R. Ben Yaou, F. Leturq, Ainhoa Mezcua, C. Marini-Bettolo, Eva Cabrera, C. Reuter, Javier Limeres Freire, J. Rodríguez-Palomares, L. Mestroni, Matthew R. G. Taylor, V. Parikh, E. Ashley, R. Barriales-Villa, J. Jiménez-Jáimez, P. García-Pavía, P. Charron, E. Biagini, J. G. García Pinilla, J. Bourke, K. Savvatis, K. Wahbi, P. Elliott   +31 more
semanticscholar   +1 more source

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

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   +1 more source

Net39 protects muscle nuclei from mechanical stress during the pathogenesis of Emery-Dreifuss muscular dystrophy

Journal of Clinical Investigation, 2023
Mutations in genes encoding nuclear envelope proteins lead to diseases known as nuclear envelopathies, characterized by skeletal muscle and heart abnormalities, such as Emery-Dreifuss muscular dystrophy (EDMD).
Yichi Zhang, Andres Ramirez-Martinez, Kenian Chen, John R. McAnally, Chunyu Cai, M. Durbacz, F. Chemello, Zhaoning Wang, Lin Xu, R. Bassel-Duby, Ning Liu, E. Olson   +11 more
semanticscholar   +1 more source