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Cardiac involvement in Emery–Dreifuss muscular dystrophy
Clinical Genetics, 2005Emery–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
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Emery-Dreifuss Humeroperoneal Muscular Dystrophy: Cardiac Manifestations
Canadian Journal of Cardiology, 2012Emery-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. +1 more
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Emery-Dreifuss Muscular Dystrophy
Nihon rinsho. Japanese journal of clinical medicine, 1998Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-linked EDMD has been identified to Xq28 (designated as STA)
Toniolo D, Bione S, Arahata K
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Molecular signatures of Emery–Dreifuss muscular dystrophy
Biochemical Society Transactions, 2008Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy).
Wheeler, Matthew A., Ellis, Juliet A.
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Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy.
Neuromuscular Disorders, 2020Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterised by the early development of muscle contractures, progressive muscle weakness, and heart abnormalities.
E. Storey, I. Holt, G. Morris, H. Fuller
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Emery–Dreifuss muscular dystrophy
2001Abstract dystrophy (EMD) is an inherited disorder characterized by early onset contractures, progressive weakness in humero-peroneal muscles, and car- diomyopathy with conduction block. The disease may have been described for the first time in 1902 (Cestan and Lejonne 1902).
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Investigating the pathology of Emery–Dreifuss muscular dystrophy
Biochemical Society Transactions, 2008EDMD (Emery–Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2–q21.3 or emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linked form and often more severe, with an earlier onset.
Susan C, Brown +3 more
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Nature Genetics, 1999G. Bonne +13 more
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Emery-Dreifuss muscular dystrophy.
Genetic counseling (Geneva, Switzerland), 2004The muscular dystrophies are a group of disorders, genetically determined, with progressive degeneration of muscle(s), without central nervous nor peripheral nerve abnormalities. The Emery-Dreifuss muscular dystrophy is one of these. We report a case with typical features.
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Emery-Dreifuss muscular dystrophy and other related disorders
British Medical Bulletin, 1989There are some 30 or so different forms of muscular dystrophy which are conveniently classified according to the mode of inheritance. Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbows, Achilles tendons and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a ...
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