Results 111 to 120 of about 8,751 (233)

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

Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland

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   +1 more source

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
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Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]

, 2003
The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A., Corfield, Valerie A., Mayosi, Bongani M., Moolman-Smook, Johanna C.   +3 more
core  

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

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children [PDF]

, 2013
Duchenne Muscular Dystrophy (DMD) is a severe, progressive disease that affects about 1 out of every 5,000 male infants; this is the most destructive of all muscular dystrophies, which worsens rapidly.
Umida T. Omonova
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Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering [PDF]

, 2018
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced ...
Cappellari, O, Duchen, MR, Eschenhagen, T, Ferrari, G, Henderson, ABH, Khedr, M, Kotiadis, VN, Maffioletti, SM, Mannhardt, I, Mitchell, JS, Moyle, LA, Patani, R, Pinton, L, Ragazzi, M, Sarcar, S, Steele-Stallard, H, Tedesco, FS, Tyzack, GE, Wang, W, Wells, DJ, Wells, KE, Zammit, PS   +21 more
core  

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience [PDF]

, 2015
France Leturcq, Rabah Ben Yaou
core   +1 more source

Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy

Stem Cell Research
Emery-Dreifuss muscular dystrophy (EDMD) stems from pathogenic variants in LMNA. We generated two patient-specific iPSC lines from peripheral blood: SCVIi145-A carrying LMNA c.241T > C (p.Tyr81His) and SCVIi146-A carrying LMNA c.357-2A > G.
Mey-Sam Chorsi, Byron J.W.H. Mui, Renke Tan, Haley M. Fernandez, Lingyun Xu, Jade T. Chao, Jacinda B. Sampson, Matthew T. Wheeler, Joseph C. Wu   +8 more
doaj   +1 more source