Results 141 to 150 of about 283,904 (171)

Orthopedic Deformities in Emery–Dreifuss Muscular Dystrophy

Journal of Pediatric Orthopaedics, 1991
Orthopedic deformities in Emery-Dreifuss muscular dystrophy are discussed based on a study of four patients and an extensive literature review. The condition is characterized by slowly progressive humeroperoneal muscle weakness; ankle equinus, elbow flexion, and neck extensor muscle contractures; paravertebral muscle tightness; and cardiac ...
F, Shapiro, L, Specht
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Emery–Dreifuss muscular dystrophy with cardiac manifestations

British Journal of Hospital Medicine, 2005
An asymptomatic 40-year-old man attended clinic for cardiology assessment before cataract surgery. He had been diagnosed 9 years earlier with a ‘non specified limb-girdle muscular dystrophy’ following investigation for lower limb muscle weakness. Earlier electrocardiograms (ECGs) showed a bradycardic, junctional escape rhythm of 30–40 beats per minute (
D, Cullington, J R, Pyatt
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Investigating the pathology of Emery–Dreifuss muscular dystrophy

Biochemical Society Transactions, 2008
EDMD (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, Richard J, Piercy, Francesco, Muntoni, Caroline A, Sewry   +3 more
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Emery–Dreifuss muscular dystrophy

2001
Abstract 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, 1999
The 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, M, Al-Lozi, A S, Parsadanian, J L, Elliott, A M, Connolly, A, Pestronk   +5 more
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A linkage study of Emery-Dreifuss muscular dystrophy

Human Genetics, 1986
We 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, E, Boswinkel, C, Cole, A, Walker, V, Dubowitz, C, Granata, L, Merlini, M, Bobrow   +7 more
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Emery-Dreifuss Muscular Dystrophy

Nihon rinsho. Japanese journal of clinical medicine, 1998
Emery-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, 1999
Emery-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, 1989
There 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, 2000
Emery-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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