{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:13:45Z","timestamp":1783577625226,"version":"3.55.0"},"reference-count":50,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T00:00:00Z","timestamp":1690416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ginatuna"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf\u2013Parkinson\u2013White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone\u2013rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire LAMP2 gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management.<\/jats:p>","DOI":"10.3390\/genes14081539","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T01:56:16Z","timestamp":1690509376000},"page":"1539","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation\u2014Case Report and Review of the Literature"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5209-2072","authenticated-orcid":false,"given":"Adel","family":"Shalata","sequence":"first","affiliation":[{"name":"The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa 32000, Israel"},{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Bar-Shai","sequence":"additional","affiliation":[{"name":"The Institute of Medical Genetics, Carmel Medical Center, Haifa 34362, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yarin","family":"Hadid","sequence":"additional","affiliation":[{"name":"The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Mahroum","sequence":"additional","affiliation":[{"name":"The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hila","family":"Mintz","sequence":"additional","affiliation":[{"name":"The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaher Eldin","family":"Shalata","sequence":"additional","affiliation":[{"name":"Siba Rihana, Medical Center, Sakhnin 30810, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeny","family":"Radzishevsky","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel"},{"name":"Cardiology Department, Bnai Zion Medical Center, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0080-8790","authenticated-orcid":false,"given":"Jacob","family":"Genizi","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel"},{"name":"Department of Pediatric, Bnai Zion Medical Center, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avraham","family":"Lorber","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel"},{"name":"Pediatric Cardiology Unit, Rambam Medical Centre, Haifa 31096, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Ben-Yosef","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liat","family":"Yaniv","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel"},{"name":"Department of Pediatric, Bnai Zion Medical Center, Haifa 32000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/nan.12587","article-title":"Review: Danon Disease: Review of Natural History and Recent Advances","volume":"46","author":"Cenacchi","year":"2020","journal-title":"Neuropathol. 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