{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:40:12Z","timestamp":1764996012775,"version":"3.28.0"},"reference-count":8,"publisher":"Texas Heart Institute Journal","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>Danon disease is a rare, codominant X-linked genetic disorder characterized by the triad of left ventricular hypertrophy, mental retardation, and peripheral myopathy. This disease is caused by mutations in the gene that encodes lysosomal associated membrane protein 2 (LAMP2), a deficiency of which results in the accumulation of autophagic granular d\u00e9bris within the vacuoles of muscle cells. This is a report of an asymptomatic 19-year-old man with Danon disease in the absence of mental retardation or clinically significant skeletal myopathy. This case underscores the importance of accurate diagnosis of unexplained left ventricular hypertrophy, in order to establish an appropriate treatment plan and to advise genetic counseling.<\/jats:p>","DOI":"10.14503\/thij-13-3279","type":"journal-article","created":{"date-parts":[[2014,6,2]],"date-time":"2014-06-02T18:35:32Z","timestamp":1401734132000},"page":"332-334","source":"Crossref","is-referenced-by-count":12,"title":["Asymptomatic Young Man with Danon Disease"],"prefix":"10.14503","volume":"41","author":[{"given":"Jiwon","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parag","family":"Parikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Mahboob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James A.","family":"Arrighi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael K.","family":"Atalay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethan J.","family":"Rowin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin S.","family":"Maron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5628","reference":[{"issue":"12","key":"i0730-2347-41-3-332-b1","series-title":"Neurology","first-page":"1773","article-title":"Clinicopathological features of genetically confirmed Danon disease","volume":"58","year":"2002","unstructured":"Sugie\n              K\n            , YamamotoA, MurayamaK, OhSJ, TakahashiM, MoraM, \n          et al. Clinicopathological features of genetically confirmed Danon disease. Neurology2002;58(12):1773\u20138."},{"issue":"12","key":"i0730-2347-41-3-332-b2","series-title":"JAMA","first-page":"1253","article-title":"Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy","volume":"301","year":"2009","unstructured":"Maron\n              BJ\n            , RobertsWC, AradM, HaasTS, SpiritoP, WrightGB, \n          et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA2009;301(12):1253\u20139."},{"issue":"6","key":"i0730-2347-41-3-332-b3","series-title":"Genet Med","first-page":"563","article-title":"Natural history of Danon disease","volume":"13","year":"2011","unstructured":"Boucek\n              D\n            , JirikowicJ, TaylorM.\n          Natural history of Danon disease. Genet Med2011;13(6):563\u20138."},{"issue":"4","key":"i0730-2347-41-3-332-b4","series-title":"N Engl J Med","first-page":"362","article-title":"Glycogen storage diseases presenting as hypertrophic cardiomyopathy","volume":"352","year":"2005","unstructured":"Arad\n              M\n            , MaronBJ, GorhamJM, JohnsonWHJr, SaulJP, Perez-AtaydeAR, \n          et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med2005;352(4): 362\u201372."},{"key":"i0730-2347-41-3-332-b5","series-title":"J Cardiovasc Magn Reson","first-page":"12","article-title":"Cardiovascular magnetic resonance findings in a case of Danon disease","volume":"11","year":"2009","unstructured":"Piotrowska-Kownacka\n              D\n            , KownackiL, KuchM, WalczakE, KosieradzkaA, FidzianskaA, KrolickiL.\n          Cardiovascular magnetic resonance findings in a case of Danon disease. J Cardiovasc Magn Reson2009;11:12."},{"issue":"4","key":"i0730-2347-41-3-332-b6","series-title":"JAMA","first-page":"405","article-title":"Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy [published erratum appears in JAMA 2007;298(13):1516]","volume":"298","year":"2007","unstructured":"Maron\n              BJ\n            , SpiritoP, ShenWK, HaasTS, FormisanoF, LinkMS, \n          et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy [published erratum appears in JAMA 2007;298(13):1516]. JAMA2007;298(4):405\u201312."},{"issue":"3","key":"i0730-2347-41-3-332-b7","series-title":"Muscle Nerve","first-page":"393","article-title":"Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease","volume":"33","year":"2006","unstructured":"Echaniz-Laguna\n              A\n            , MohrM, EpaillyE, NishinoI, CharronP, RichardP, \n          et al. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. Muscle Nerve2006;33(3):393\u20137."},{"issue":"11","key":"i0730-2347-41-3-332-b8","series-title":"Circulation","first-page":"1612","article-title":"Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children","volume":"112","year":"2005","unstructured":"Yang\n              Z\n            , McMahonCJ, SmithLR, BersolaJ, AdesinaAM, BreinholtJP, \n          et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation2005;112(11):1612\u20137."}],"container-title":["Texas Heart Institute Journal"],"original-title":[],"link":[{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/41\/3\/article-p332.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/meridian.allenpress.com\/thij\/article-pdf\/41\/3\/332\/2549728\/thij-13-3279.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/41\/3\/article-p332.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/41\/3\/article-p332.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T15:31:37Z","timestamp":1730993497000},"score":1,"resource":{"primary":{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/41\/3\/article-p332.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":8,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.14503\/thij-13-3279","relation":{},"ISSN":["0730-2347","1526-6702"],"issn-type":[{"type":"print","value":"0730-2347"},{"type":"electronic","value":"1526-6702"}],"subject":[],"published":{"date-parts":[[2014,6]]}}}