Results 181 to 190 of about 8,752 (229)

Emery Dreifuss muscular dystrophy masquerading as limb girdle muscular dystrophy type 2 due to a novel mutation in emerin gene

IP Indian Journal of Neurosciences
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy with frequent life-threatening cardiac complications. It classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy.
Somarajan Anandan, Sajeesh S. Rajendran, Joesni Joy, Sisira Sree Rajan   +3 more
semanticscholar   +1 more source

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

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery–Dreifuss Muscular Dystrophy

Journal of Clinical Neuromuscular Disease
Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery–Dreifuss muscular dystrophy type 6.
Chinmayee B. Nagaraj, Cuixia Tian, H. Kushlaf   +2 more
semanticscholar   +1 more source

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

Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery–Dreifuss Muscular Dystrophy Caused by EMD Variants

Muscle and Nerve
Variants in the EMD gene cause Emery–Dreifuss muscular dystrophy type 1 (EDMD1). While the pattern of fat replacement in the legs of patients with EDMD1 is known, the involvement of the trunk and arms remains unclear. This study aimed to characterize the
R. Shimazaki, Satoru Noguchi, Shinichiro Hayashi, Ichizo Nishino   +3 more
semanticscholar   +1 more source

X-linked Emery-Dreifuss muscular dystrophy caused by a novel FHL1 mutation: A case report.

Journal of International Medical Research
This study characterizes a multigenerational family with X-linked Emery-Dreifuss muscular dystrophy associated with a novel FHL1 mutation (c.746G>A, p.Cys249Tyr). Among 21 family members, 5 were affected and 3 had died. The affected individuals exhibited
Haimei Zhang, Siming Tang, Wei Zhang, Wei Wang, Wei Tang   +4 more
semanticscholar   +1 more source

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Nature Genetics, 1999
G. Bonne, M. R. D. Barletta, S. Varnous, H. Bécane, E. Hammouda, L. Merlini, F. Muntoni, C. Greenberg, F. Gary, J. Urtizberea, D. Duboc, M. Fardeau, D. Toniolo, K. Schwartz   +13 more
semanticscholar   +1 more source

Anaesthetic considerations for a patient with Emery-Dreifuss muscular dystrophy undergoing cardiac resynchronisation therapy with pacemaker implantation.

Anaesthesia Reports
Emery-Dreifuss muscular dystrophy is a rare inherited neuromuscular disorder characterised by early joint contractures, slowly progressive humero-peroneal weakness and cardiac conduction defects or cardiomyopathy.
B. Ng, E. Lim, K. Valchanov
semanticscholar   +1 more source

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Nature Genetics, 1994
S. Bione, E. Maestrini, S. Rivella, M. Mancini, S. Regis, G. Romeo, D. Toniolo   +6 more
semanticscholar   +1 more source

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Annals of Neurology, 2000
G. Bonne, E. Mercuri, A. Muchir, A. Urtizberea, H. Bécane, D. Récan, L. Merlini, M. Wehnert, R. Boor, U. Reuner, M. Vorgerd, E. Wicklein, B. Eymard, D. Duboc, I. Pénisson‐Besnier, J. Cuisset, X. Ferrer, I. Desguerre, D. Lacombe, K. Bushby, C. Pollitt, D. Toniolo, M. Fardeau, K. Schwartz, F. Muntoni   +24 more
semanticscholar   +1 more source