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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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Mutation analysis in emery-dreifuss muscular dystrophy
Pediatric Neurology, 1999The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers.
Y, Nevo +5 more
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A linkage study of Emery-Dreifuss muscular dystrophy
Human Genetics, 1986We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy.
S, Hodgson +7 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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Emerin and cardiomyopathy in Emery–Dreifuss muscular dystrophy
Neuromuscular Disorders, 1999Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by the clinical triad of life-threatening progressive cardiomyopathy with conduction defect, early onset joint contractures and slow progressive muscle weakness in scapulo-humero-peroneal distribution.
M, Funakoshi, Y, Tsuchiya, K, Arahata
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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.
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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The role of the nuclear envelope in Emery–Dreifuss muscular dystrophy
Trends in Molecular Medicine, 2001The X-linked form of Emery-Dreifuss muscular dystrophy (X-EDMD) is caused by absence, or greatly reduced amounts, of the inner nuclear-membrane protein, emerin. The autosomal dominant form (AD-EDMD) is caused by missense mutations in lamins A and C, two components of the nuclear lamina that interact directly with emerin.
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Emery-Dreifuss muscular dystrophy
Journal of the Neurological Sciences, 1987Hideo Hara +4 more
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