{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9"],"submitter":["Wang JJ"],"pubmed_abstract":["Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the <i>LAMP2</i> gene. In this case report, we present a patient with a novel pathogenic mutation (c.764_765insGA) with cardiac-only symptoms. Her family members do not carry the same mutation she does, suggesting this is a <i>de novo</i> mutation. Further tests revealed vacuoles and glycogen disposition in the patient's heart tissue and a significant decrease in LAMP2 protein expression. Protein structure remodeling of LAMP2 predicted that the mutant protein has conformational change lacking an important transmembrane domain, subsequently causing protein destabilization."],"journal":["Frontiers in cardiovascular medicine"],"pagination":["899283"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9523138"],"repository":["biostudies-literature"],"pubmed_title":["<i>De novo LAMP2</i> insertion mutation causes cardiac-only Danon disease: A case report."],"pmcid":["PMC9523138"],"pubmed_authors":["Yu B","Wang H","Wang JJ","Song X"],"additional_accession":[]},"is_claimable":false,"name":"<i>De novo LAMP2</i> insertion mutation causes cardiac-only Danon disease: A case report.","description":"Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the <i>LAMP2</i> gene. In this case report, we present a patient with a novel pathogenic mutation (c.764_765insGA) with cardiac-only symptoms. Her family members do not carry the same mutation she does, suggesting this is a <i>de novo</i> mutation. Further tests revealed vacuoles and glycogen disposition in the patient's heart tissue and a significant decrease in LAMP2 protein expression. Protein structure remodeling of LAMP2 predicted that the mutant protein has conformational change lacking an important transmembrane domain, subsequently causing protein destabilization.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-06-01T02:23:45.187Z","creation":"2025-04-05T22:22:40.664Z"},"accession":"S-EPMC9523138","cross_references":{"pubmed":["36187011"],"doi":["10.3389/fcvm.2022.899283"]}}