Articles with "dreifuss muscular" as a keyword



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Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography.

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Published in 2018 at "Medical hypotheses"

DOI: 10.1016/j.mehy.2018.06.027

Abstract: INTRODUCTION Emery-Dreifuss muscular dystrophy (EDMD) is a clinical condition characterized by neuro-skeletal and cardiac impairments. By means of thermography, an image acquisition technique that allows the recording of the heat emitted by objects or bodies,… read more here.

Keywords: muscular dystrophy; emery dreifuss; dreifuss muscular; dreifuss ... See more keywords
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Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

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Published in 2022 at "Neuropediatrics"

DOI: 10.1055/s-0043-1768989

Abstract: Abstract Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the… read more here.

Keywords: muscle mri; muscle; mri; muscular dystrophy ... See more keywords
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Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation.

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Published in 2019 at "Human molecular genetics"

DOI: 10.1093/hmg/ddz056

Abstract: Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and… read more here.

Keywords: dreifuss muscular; performance; muscular dystrophy; emery dreifuss ... See more keywords
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Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children

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Published in 2021 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2021.668231

Abstract: 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. Cardiac phenotype typically arises years after skeletal muscle presentation, though,… read more here.

Keywords: heart rhythm; muscle; muscular dystrophy; dystrophy ... See more keywords
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Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype

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Published in 2021 at "Biomolecules"

DOI: 10.3390/biom11040538

Abstract: 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… read more here.

Keywords: cdkn2a; muscular dystrophy; emery dreifuss; dreifuss muscular ... See more keywords
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X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

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Published in 2019 at "Genes"

DOI: 10.3390/genes10110919

Abstract: X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of… read more here.

Keywords: linked emery; muscular dystrophy; female carriers; emery dreifuss ... See more keywords