Results 121 to 130 of about 4,511 (155)

Emery–Dreifuss muscular dystrophy

2011
Emery-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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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, A E, Oge, C, Bayindir, C, Kaymaz, Y, Nişanci, K, Adalet, J R, Yates, C, Ozdemir   +7 more
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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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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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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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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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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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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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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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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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