Results 1 to 10 of about 4,658 (135)
Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy [PDF]
Cells, 2018 LMNA linked-Emery-Dreifuss muscular dystrophy (EDMD2) is a rare disease characterized by muscle weakness, muscle wasting, and cardiomyopathy with conduction defects.
Elisa Schena +2 more
exaly +8 more sources
An Omics View of Emery–Dreifuss Muscular Dystrophy [PDF]
Journal of Personalized Medicine, 2020 Recent progress in Omics technologies has started to empower personalized healthcare development at a thorough biomolecular level. Omics have subsidized medical breakthroughs that have started to enter clinical proceedings. The use of this scientific know-how has surfaced as a way to provide a more far-reaching view of the biological mechanisms behind ...
Antoine Muchir, Nicolas Vignier
exaly +6 more sources
Clinical aspects of Emery-Dreifuss muscular dystrophy [PDF]
Nucleus, 2018 Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin ...
Agnieszka Madej-Pilarczyk
exaly +5 more sources
Emery-Dreifuss muscular dystrophy. [PDF]
Muscle Nerve, 2020 AbstractEmery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life‐threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these ...
Heller SA, Shih R, Kalra R, Kang PB.
europepmc +8 more sources
Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report [PDF]
Brazilian Journal of Anesthesiology, 2023 Emery-Dreifuss Muscular Dystrophy is a very rare type of muscular dystrophy, associated with contractures, atrophy, and muscle weakness, besides cardiomyopathy with severe arrhythmias. Published studies focusing on this disorder are scarce.
Ana Isabel Leite +4 more
doaj +2 more sources
A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis [PDF]
BMC PediatricsBackground Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement.
Sachith Mettananda +5 more
doaj +2 more sources
Emery-Dreifuss muscular dystrophy [PDF]
Anaesthesia, 1991 Summary Emery‐Dreifuss syndrome is a rare form of muscular dystrophy associated with cardiac complications that lead to sudden death. The disorder and its potential anaesthetic implications in the management of a patient who presented for orthopaedic surgery is described.
P, Morrison, R H, Jago
exaly +3 more sources
X-linked Emery–Dreifuss muscular dystrophy caused by a novel mutation: A case report [PDF]
Journal of International Medical ResearchThis 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 +4 more
doaj +2 more sources
Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype [PDF]
Biomolecules, 2021 The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in ...
Gloria Pegoli +8 more
doaj +2 more sources
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report [PDF]
BMC Pediatrics, 2022 Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies.
Kristy Iskandar +9 more
doaj +2 more sources