Results 11 to 20 of about 4,510 (163)

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

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

Current Topics of Progressive Cardiac Conduction Disease. [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott JJ, Wilde AAM.   +7 more
europepmc   +2 more sources

A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. [PDF]

Brain Pathol
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Pauper M, Kölbel H, Karakesisoglou I, Schänzer A, Böhm J, Thompson R, Kohlschmidt N, Ringel B, Bonne G, Neuhoff K, Gangfuß A, Kilicarslan OA, Agullo SB, Hentschel A, Schara-Schmidt U, Lochmüller H, Polavarapu K, Roos A.   +17 more
europepmc   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report

Brazilian Journal of Anesthesiology, 2023
Emery-Dreifuss Muscular Dystrophy is a very rare type of muscular dystrophy, associated with contractures, atrophy, and muscle weakness, besides cardiomyopathy with severe arrhythmias. Published studies focusing on this disorder are scarce.
Ana Isabel Leite, Sofia da Silva Ramos, Raquel In..cio, Isabel Rute Vilhena, Joana Carvalhas   +4 more
doaj   +1 more source

Emery‐Dreifuss muscular dystrophy [PDF]

Muscle & Nerve, 2019
AbstractEmery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life‐threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these ...
Scott A. Heller, Renata Shih, Raghav Kalra, Peter B. Kang   +3 more
openaire   +2 more sources

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization

Nature Communications, 2021
The nuclear envelope tethers chromatin to the nuclear periphery to control genome architecture. Here, the authors show that Net39 preserves the integrity and gene expression of muscle nuclei in mice, and it may contribute to the pathogenesis of Emery ...
Andres Ramirez-Martinez, Yichi Zhang, Kenian Chen, Jiwoong Kim, Bercin K. Cenik, John R. McAnally, Chunyu Cai, John M. Shelton, Jian Huang, Ana Brennan, Bret M. Evers, Pradeep P. A. Mammen, Lin Xu, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson   +15 more
doaj   +1 more source

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

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