Results 11 to 20 of about 283,904 (179)

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy [PDF]

Folia Neuropathologica, 2016
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk, Andrzej Kochański   +1 more
doaj   +4 more sources

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Folia Neuropathologica, 2017
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined.
Irena Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel, Irena Hausmanowa-Petrusewicz   +4 more
doaj   +2 more sources

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
core   +5 more sources

Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report

Arquivos de Neuro-Psiquiatria, 2006
A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras ...
Ana Lucila Moreira Carsten, Paulo José Lorenzoni, Rosana Herminia Scola, Lineu César Werneck   +3 more
doaj   +2 more sources

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-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, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
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

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy [PDF]

Indian Journal of Radiology and Imaging
Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited syndrome that affects muscles, joints, and the heart. The classic clinical triad includes early joint contractures, slowly progressive muscle weakness, and cardiac abnormalities.
Basavaraj Biradar, Jineesh Valakkada, Anoop Ayyappan, Ajay Alex   +3 more
doaj   +2 more sources

Cardiac involvement in Emery–Dreifuss muscular dystrophy

Clinical Genetics, 2005
Emery–Dreifuss muscular dystrophy (EDMD) is a common form of muscular dystrophy frequently involving cardiac muscle, thus leading to dilated cardiomyopathy. Clinical outcome and prognosis is frequently determined by the involvement of the cardiac conduction system causing symptomatic bradyarrhythmias, as well as tachyarrhythmias and, if untreated ...
R, Wessely, S, Seidl, A, Schömig
openaire   +3 more sources

Emery‐Dreifuss muscular dystrophy with unusual features

Muscle & Nerve, 1993
AbstractTwo families with Emery‐Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD.
F, Deymeer, A E, Oge, C, Bayindir, C, Kaymaz, Y, Nişanci, K, Adalet, J R, Yates, C, Ozdemir   +7 more
openaire   +3 more sources

Emery-Dreifuss Humeroperoneal Muscular Dystrophy: Cardiac Manifestations

Canadian Journal of Cardiology, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by muscular atrophy, contractures, and cardiomyopathy with conduction defects. It can be X-linked or autosomal. Not all patients with EDMD develop heart involvement, but heart disease associated with EDMD can be unpredictable and ...
Parmar, Malvinder S., Parmar, Kamalpreet S.   +1 more
openaire   +6 more sources