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.
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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.
Elisabetta Mattioli +5 more
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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
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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
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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
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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
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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
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A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy [PDF]
Case Reports in Genetics, 2020 This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
Xiafei Dai +8 more
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Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation [PDF]
Journal of Physiological Sciences, 2023 Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada +4 more
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Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy [PDF]
Cardiology Research and Practice, 2021 Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects.
Michał Marchel +9 more
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