Results 61 to 70 of about 8,751 (233)
Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
Frontiers in Cardiovascular Medicine, 2021 Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction.
T. Kovalchuk +17 more
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Annals of Clinical and Translational Neurology, 2021 Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data.
Daniel G. Calame +16 more
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Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
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Annals of Indian Academy of Neurology, 2012 Emery-Dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD) is X linked, whereas EDMD2 is autosomal dominant.
Khushal B Jadhav +2 more
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Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies
Biomedicines, 2022 Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett +5 more
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Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]
, 2004 Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
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Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report) [PDF]
Arquivos de Neuro-Psiquiatria, 2000 We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes.
ALZIRA ALVES DE SIQUEIRA CARVALHO +5 more
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An uncommon variant of rare type of muscular dystrophy [PDF]
, 2017 The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures ...
A., Jayashankar C. +5 more
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Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]
, 2018 Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide +13 more
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Physiology of respiratory disturbances in muscular dystrophies [PDF]
, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
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