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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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Emery–Dreifuss muscular dystrophy – a 40 year retrospective
Neuromuscular Disorders, 2000Emery-Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures and humero-peroneal weakness, and cardiac conduction defects. The gene, STA at Xq28, for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated ...
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Emery-Dreifuss Muscular Dystrophy Type 1
2014Emery-Dreifuss muscular dystrophy (EDMD) is a progressive myopathy characterized by a clinical triad including slowly progressive muscle weakness and atrophy (initially with a humero-peroneal distribution but later becoming more diffuse); joint contractures of the Achilles, elbow, and neck tendons, beginning during early childhood and leading to ...
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Emery-Dreifuss muscular dystrophy
Journal of the Neurological Sciences, 1987Hideo Hara +4 more
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Emery-Dreifuss Muscular Dystrophy Type 2
2014Emery-Dreifuss muscular dystrophy (EDMD) is a progressive myopathy characterized by a clinical triad including slowly progressive muscle weakness and atrophy (initially with a humero-peroneal distribution but later becoming more diffuse); joint contractures of the Achilles, elbow, and neck tendons, beginning during early childhood and leading to ...
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Emery-Dreifuss Muscular Dystrophy Type 4
2017The SYNE1 (synaptic nuclear envelope protein (1) gene encodes nesprin-1, a large protein characterized by the presence of multiple spectrin repeats which is highly expressed in striated muscles.
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