Results 131 to 140 of about 283,904 (171)
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
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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 +7 more
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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. +1 more
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Molecular signatures of Emery–Dreifuss muscular dystrophy
Biochemical Society Transactions, 2008 Mutations 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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The rigid spine syndrome and Emery-Dreifuss muscular dystrophy
Clinical Neurology and Neurosurgery, 1986We present five patients, three of whom suffered from a rigid spine syndrome and two from Emery-Dreifuss muscular dystrophy. One patient with rigid spine syndrome showed a nonprogressive course, normal cardiac rhythm and mild myopathic changes in muscle histology, while in the other two patients there was a rapidly progressive course, sinus tachycardia
Hideo Hara +2 more
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Emery-Dreifuss muscular dystrophy
The Journal of Pediatrics, 1984Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac ...
R P, Dickey, F A, Ziter, R A, Smith
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Emery-Dreifuss muscular dystrophy
Current Neurology and Neuroscience Reports, 2007Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin. Autosomally inherited EDMD is caused by mutations in LMNA, which encodes A-type nuclear lamins, intermediate filament proteins ...
Antoine, Muchir, Howard J, Worman
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Emery-Dreifuss Muscular Dystrophy
2013Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease characterized by the triad of (1) early contractures of the elbows, ankles, and cervical spine; (2) humero-peroneal muscle wasting and weakness; and (3) cardiomyopathy (Emery AE, Dreifuss FE, J Neurol Neurosurg Psychiatry, 29:338–342, 1966).
N.M. MARALDI, L. MERLINI
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Emery‐dreifuss muscular dystrophy
Annals of Neurology, 1979AbstractA man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X‐linked recessive trait. Mixed patterns in electromyography
L P, Rowland +5 more
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Emery–Dreifuss muscular dystrophy
2011Emery-Dreifuss muscular dystrophy (EDMD) is a progressive muscle-wasting disorder defined by early contractures of the Achilles tendon, spine, and elbows. EDMD is also distinctive for its association with defects of the cardiac conduction system that can result in sudden death.
Megan, Puckelwartz, Elizabeth M, McNally
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