Results 131 to 140 of about 4,510 (163)

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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).
openaire   +1 more source

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.
openaire   +3 more sources

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
openaire   +3 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Emery-Dreifuss Humeroperoneal Muscular Dystrophy: Cardiac Manifestations

Canadian Journal of Cardiology, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by muscular atrophy, contractures, and cardiomyopathy with conduction defects. It can be X-linked or autosomal. Not all patients with EDMD develop heart involvement, but heart disease associated with EDMD can be unpredictable and ...
Parmar, Malvinder S., Parmar, Kamalpreet S.   +1 more
openaire   +5 more sources

Cardiac transplantation in female Emery-Dreifuss muscular dystrophy

Journal of Neurology, 1990
A young woman with humeroperoneal muscular dystrophy and contractures received a heart transplant for a severe dilated cardiomyopathy. Cardiac histopathology consisted of myocyte hypertrophy, interstitial fibrosis, and nuclear hyperchromaticity without mitochondrial abnormalities.
M P, Merchut, D, Zdonczyk, M, Gujrati
openaire   +2 more sources