Results 91 to 100 of about 283,904 (171)

Emery-Dreifuss Muscular Dystrophy

, 2019
International audienceClinical characteristics Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero ...
Yaou, Rabah, Ben, Bonne, Gisèle, Leturcq, France   +2 more
core   +2 more sources

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 Muscular Dystrophy Type 5 - A Diagnostic Challenge

, 2020
Emery-Dreifuss muscular dystrophy is a rare and often slowly progressive genetic disorder that primarily affects skeletal muscles and cardiac ...
Konstantinos A. A. Douglas; Vivian Paraskevi Douglas; Bart K. Chwalisz
core  

Mechanotransduction in fibroblasts [PDF]

, 2011
Response to mechanical stress is important for tissue homeostasis, tissue architecture and muscle regeneration. All cells of an organism are subject to at least one of three types of mechanical stress: compression, shear stress or tension.
Brosig, Michaela
core   +1 more source

An Extremely Rare Cause of Rhabdomyolysis: Emery Dreifuss Syndrome

Bagcilar Medical Bulletin
Intense physical activity, medications and trauma are common causes of rhabdomyolysis. However, etiologic factor of rhabdomyolysis can not be determined in a remarkable proportion of the cases.
Hazal Levent, Yunus Çoruk, Elif Itır Şen, Yasemin Çepni, Ayça Çınar, Ahmet Murat, Numan Görgülü   +6 more
doaj   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

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

Eur Heart J, 2023
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM.   +31 more
europepmc   +1 more source

Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report. [PDF]

Front Neurol, 2023
Zambrano AK, Paz-Cruz E, Cadena-Ullauri S, Guevara-Ramírez P, Ruiz-Pozo VA, Tamayo-Trujillo R, Ibarra-Castillo R, Laso-Bayas JL, Doménech N, Ibarra-Rodríguez AA, Hidalgo R.   +10 more
europepmc   +1 more source

Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy. [PDF]

Mol Genet Genomic Med, 2023
Xie Y, Luo J, Zhong J, Liu X, Tang J, Lan D.   +5 more
europepmc   +1 more source

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

J Clin Invest, 2023
Zhang Y, Ramirez-Martinez A, Chen K, McAnally JR, Cai C, Durbacz MZ, Chemello F, Wang Z, Xu L, Bassel-Duby R, Liu N, Olson EN.   +11 more
europepmc   +1 more source