biostudies-literatureUnknown9Wang JJDanon 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.Frontiers in cardiovascular medicine899283https://www.ebi.ac.uk/biostudies/studies/S-EPMC9523138biostudies-literature<i>De novo LAMP2</i> insertion mutation causes cardiac-only Danon disease: A case report.PMC9523138Yu BWang HWang JJSong Xfalse<i>De novo LAMP2</i> insertion mutation causes cardiac-only Danon disease: A case report.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.2022-01-01T00:00:00Z20222026-06-01T02:23:45.187Z2025-04-05T22:22:40.664ZS-EPMC95231383618701110.3389/fcvm.2022.899283