{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,15]],"date-time":"2025-03-15T04:16:37Z","timestamp":1742012197575,"version":"3.38.0"},"reference-count":19,"publisher":"Japanese Society of Internal Medicine","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2025,3,15]]},"DOI":"10.2169\/internalmedicine.3953-24","type":"journal-article","created":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T22:10:35Z","timestamp":1723068635000},"page":"857-863","source":"Crossref","is-referenced-by-count":0,"title":["Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (&lt;i&gt;LAMP-2&lt;\/i&gt;) Gene"],"prefix":"10.2169","volume":"64","author":[{"given":"Yoichiro","family":"Nakagawa","sequence":"first","affiliation":[{"name":"Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenshi","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Kanazawa University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Tada","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miwako","family":"Asakawa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ishikawa Prefectural Central Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shohei","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Kanazawa University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Kanazawa University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Miwa","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Furusho","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayuki","family":"Takamura","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Kanazawa University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Yasuda","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"publisher","unstructured":"1. Danon MJ, Oh SJ, DiMauro S, et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology 31: 51-57, 1981.","DOI":"10.1212\/WNL.31.1.51"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406: 906-910, 2000.","DOI":"10.1038\/35022604"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Khandia R, Dadar M, Munjal A, et al. A Comprehensive review of autophagy and its various roles in infectious, non-infectious, and lifestyle diseases: current knowledge and prospects for disease prevention, novel drug design, and therapy. Cells 8: 674, 2019.","DOI":"10.3390\/cells8070674"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Cheng Z, Fang Q. Danon disease: focusing on heart. J Hum Genet 57: 407-410, 2012.","DOI":"10.1038\/jhg.2012.72"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Brambatti M, Caspi O, Maolo A, et al. Danon disease: gender differences in presentation and outcomes. Int J Cardiol 286: 92-98, 2019.","DOI":"10.1016\/j.ijcard.2019.01.020"},{"key":"6","doi-asserted-by":"publisher","unstructured":"6. Sugie K, Yamamoto A, Murayama K, et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 58: 1773-1778, 2002.","DOI":"10.1212\/WNL.58.12.1773"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C. Review: Danon disease: review of natural history and recent advances. Neuropathol Appl Neurobiol 46: 303-322, 2020.","DOI":"10.1111\/nan.12587"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Yoshida S, Nakanishi C, Okada H, et al. Characteristics of induced pluripotent stem cells from clinically divergent female monozygotic twins with Danon disease. J Mol Cell Cardiol 114: 234-242, 2018.","DOI":"10.1016\/j.yjmcc.2017.11.019"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Richards S, Aziz N, Bale S, et al.; ACMG Laboratory. Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17: 405-424, 2015.","DOI":"10.1038\/gim.2015.30"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Hong KN, Eshraghian EA, Arad M, et al. International consensus on differential diagnosis and management of patients with Danon disease: JACC state-of-the-art review. J Am Coll Cardiol 82: 1628-1647, 2023.","DOI":"10.1016\/j.jacc.2023.08.014"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. D&apos;souza RS, Levandowski C, Slavov D, et al. Danon disease: clinical features, evaluation, and management. Circ Heart Fail 7: 843-849, 2014.","DOI":"10.1161\/CIRCHEARTFAILURE.114.001105"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Sugie K, Komaki H, Eura N, et al. A nationwide survey on Danon disease in Japan. Int J Mol Sci 19: 3507, 2018.","DOI":"10.3390\/ijms19113507"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Musumeci O, Rodolico C, Nishino I, et al. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in <i>Lamp-2<\/i> gene. Neuromuscul Disord 15: 409-411, 2005.","DOI":"10.1016\/j.nmd.2005.02.008"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Abe R, Ko T, Inoue S, et al. A pathogenic <i>LAMP2<\/i> non-canonical splice site mutation caused Danon disease requiring heart transplantation. Circ J 88: 612, 2024.","DOI":"10.1253\/circj.CJ-23-0938"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Kyaw H, Shaik F, Lin AN, Shinnar M. A mild version of Danon disease caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene. Cureus 10: e2155, 2018.","DOI":"10.7759\/cureus.2155"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Charron P, Villard E, S\u00e9billon P, et al. Danon&apos;s disease as a cause of hypertrophic cardiomyopathy: a systematic survey. Heart 90: 842-846, 2004.","DOI":"10.1136\/hrt.2003.029504"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Sugie K, Noguchi S, Kozuka Y, et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol 64: 513-522, 2005.","DOI":"10.1093\/jnen\/64.6.513"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Zhai Y, Miao J, Peng Y, et al. Clinical features of Danon disease and insights gained from LAMP-2 deficiency models. Trends Cardiovasc Med 33: 81-89, 2023.","DOI":"10.1016\/j.tcm.2021.10.012"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Manso AM, Hashem SI, Nelson BC, et al. Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease. Sci Transl Med 12: eaax1744, 2020.","DOI":"10.1126\/scitranslmed.aax1744"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/64\/6\/64_3953-24\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,15]],"date-time":"2025-03-15T03:31:31Z","timestamp":1742009491000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/64\/6\/64_3953-24\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,15]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.3953-24","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"type":"print","value":"0918-2918"},{"type":"electronic","value":"1349-7235"}],"subject":[],"published":{"date-parts":[[2025,3,15]]},"article-number":"3953-24"}}