Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography.
Sign Up to like & getrecommendations! 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
Is infrared thermography (IRT) a possible tool for the evaluation and follow up of Emery-Dreifuss muscular dystrophy? A preliminary study.
Sign Up to like & getrecommendations! Published in 2019 at "Medical hypotheses"
DOI: 10.1016/j.mehy.2019.04.011
Abstract: HYPOTHESIS The hypothesis of this work is that infrared thermography could become a valid tool for the diagnosis and follow-up of the Emery-Dreifuss disease due to putative temperature changes produced by a constant degenerative evolution… read more here.
Keywords: thermography; infrared thermography; pathology; follow emery ... See more keywords
Relationship between infrared skin radiation and functional tests in patients affected by Emery-Dreifuss muscular dystrophy: Part 2.
Sign Up to like & getrecommendations! Published in 2020 at "Medical hypotheses"
DOI: 10.1016/j.mehy.2020.110348
Abstract: HYPOTHESIS This study represents a second part of a recently published study about a new form of evaluation and development of rare genetic neurodegenerative diseases. The objective is to provide a more global vision of… read more here.
Keywords: muscular dystrophy; part; emery dreifuss; pathology ... See more keywords
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1
Sign Up to like & getrecommendations! 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
Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation.
Sign Up to like & getrecommendations! 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
Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
Sign Up to like & getrecommendations! 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
Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1183147
Abstract: Introduction Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4… read more here.
Keywords: dystrophy; genes associated; case; muscular dystrophy ... See more keywords
Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype
Sign Up to like & getrecommendations! 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
X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers
Sign Up to like & getrecommendations! 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