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Cardiac manifestations in Emery-Dreifuss muscular dystrophy. [PDF]
CMAJ, 2018 KEY POINTS A 35-year-old man with a known history of Emery–Dreifuss muscular dystrophy called emergency medical services (EMS) while at work one morning, reporting palpitations, lightheadedness, fatigue and a rapid heart rate.
Faiella W, Bessoudo R.
europepmc +4 more sources
LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Архивъ внутренней медициныEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik +5 more
doaj +2 more sources
Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy [PDF]
Neurology International, 2018 Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure.
Abdallah Fayssoil
doaj +2 more sources
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland [PDF]
International Journal of Occupational Medicine and Environmental Health, 2014 Objectives: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare genetic disorder affecting skeletal and heart muscles. The aim of this study was to identify factors which might influence the ability to work in EDMD patients in Poland.
Agnieszka Madej-Pilarczyk
doaj +3 more sources
Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy [PDF]
Anaesthesia and Intensive Care, 2002 Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy associated with cardiac implications such as cardiomyopathy and arrhythmias leading to sudden death. We describe the anesthetic management of a patient with Emery-Dreifuss muscular dystrophy who presented for orthopaedic surgery and discuss the disorder and its potential anaesthetic
Ramesh Agarwal
exaly +3 more sources
Emery-Dreifuss muscular dystrophy: a closer look at cardiac complications. [PDF]
Eur Heart J, 2023 Kramarenko D, Walsh R.
europepmc +3 more sources
The role of lamin A and emerin in mediating genome organisation [PDF]
, 2010 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.The nuclear matrix (NM) is proposed to be a permanent network of core filaments underlying thicker fibres, present regardless of transcriptional activity ...
Godwin, Lauren Sarah
core +7 more sources
Both emerin and lamin C depend on lamin A for localization at the nuclear envelope [PDF]
, 2001 Physical interactions between lamins and emerin were investigated by co-immunoprecipitation of in vitro translated proteins. Emerin interacted with in vitro translated lamins A, B1 and C in co-immunprecipitation reactions.
Whitfield, WGF +8 more
core +8 more sources
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 +15 more
doaj +1 more source
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 +9 more
doaj +1 more source