Results 81 to 90 of about 4,511 (155)

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

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

Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy. [PDF]

Hum Mutat, 2022
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J.   +8 more
europepmc   +1 more source

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series. [PDF]

Eur Heart J Case Rep, 2023
Kashyap N, Nikhanj A, Gagnon LR, Moukaskas B, Siddiqi ZA, Oudit GY.   +5 more
europepmc   +1 more source

Familial Testicular Germ Cell Tumor in Two Brothers With Emery Dreifuss Muscular Dystrophy Caused by an FHL-1 Mutation: A Case Report. [PDF]

Cureus, 2023
Angerer M, Wülfing C, Dieckmann KP.
europepmc   +1 more source

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees. [PDF]

Hum Mol Genet, 2023
de Las Heras JI, Todorow V, Krečinić-Balić L, Hintze S, Czapiewski R, Webb S, Schoser B, Meinke P, Schirmer EC.   +8 more
europepmc   +1 more source

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5. [PDF]

J Neuroophthalmol, 2021
Douglas KAA, Douglas VP, Gaier ED, Chwalisz BK.   +3 more
europepmc   +1 more source