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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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Muscular Dystrophy: Emery–Dreifuss, Facioscapulohumeral, Scapuloperoneal, and Bethlem Myopathy
, 2014J. Statland, R. Tawil
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