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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
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
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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Emery-Dreifuss muscular dystrophy [PDF]
European Journal of Human Genetics, 2002 Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and ...
Gisele Bonne +2 more
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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
doaj +4 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
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Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy [PDF]
Folia Neuropathologica, 2016 Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk +1 more
doaj +3 more sources
Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy [PDF]
Anaesthesia and Intensive Care, 2002 Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy associated with cardiac implications such as cardiomyopathy and arrhythmias leading to sudden death. We describe the anesthetic management of a patient with Emery-Dreifuss muscular dystrophy who presented for orthopaedic surgery and discuss the disorder and its potential anaesthetic
Ramesh Agarwal
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Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy [PDF]
Indian Journal of Radiology and ImagingEmery–Dreifuss muscular dystrophy (EDMD) is a rare inherited syndrome that affects muscles, joints, and the heart. The classic clinical triad includes early joint contractures, slowly progressive muscle weakness, and cardiac abnormalities.
Basavaraj Biradar +3 more
doaj +2 more sources