{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(5)"],"submitter":["Bouman K"],"pubmed_abstract":["<h4>Background</h4>LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.<h4>Objective</h4>The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.<h4>Methods</h4>In this case series including two time points, we conducted comprehensive assessments with electrocardiography (ECG) and transthoracic echocardiography (TTE). ECGs were systematically a"],"journal":["Journal of neuromuscular diseases"],"pagination":["919-934"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11380286"],"repository":["biostudies-literature"],"pubmed_title":["Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series."],"pmcid":["PMC11380286"],"pubmed_authors":["Evertz R","van Engelen BGM","Boesaard E","Voermans NC","Udink Ten Cate FEA","Bouman K","Nijveldt R","van den Heuvel FMA","Groothuis JT","Erasmus CE"],"additional_accession":[]},"is_claimable":false,"name":"Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.","description":"<h4>Background</h4>LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.<h4>Objective</h4>The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.<h4>Methods</h4>In this case series including two time points, we conducted comprehensive assessments with electrocardiography (ECG) and transthoracic echocardiography (TTE). ECGs were systematically a","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-06-01T13:24:59.256Z","creation":"2025-04-03T23:55:49.028Z"},"accession":"S-EPMC11380286","cross_references":{"pubmed":["39177608"],"doi":["10.3233/JND-230190"]}}