{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:35:07Z","timestamp":1764995707484},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,2,13]],"date-time":"2008-02-13T00:00:00Z","timestamp":1202860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> We report a case of a 16\u2010yr\u2010old male with Danon disease caused by a novel mutation in the LAMP\u20102 gene. Mutations in the LAMP\u20102 gene result in the absence of LAMP\u20102 on immunohistochemical staining of muscle tissue, thus defining Danon disease, a rare X\u2010linked myopathy. It is characterized clinically by HCM or left ventricular hypertrophy, a WPW pattern on ECG, variable degrees of muscular weakness (skeletal myopathy), mental retardation, and retinal changes. The patient presented with severe skeletal muscular weakness and respiratory failure. He also had a history of two OHTs, the first one for severe HCM and the second for allograft rejection. The patient\u2019s myopathy was initially presumed to be exclusively related to steroid\u2010induced \u201ccritical care myopathy.\u201d However, further evaluation with a thigh muscle biopsy revealed autophagic vacuoles with sarcolemnal features suggestive of a lysosomal storage disorder. DNA analysis ultimately identified a previously unreported hemizygous IVS6+3_+6delGAGT splice site deletion mutation in the LAMP\u20102 gene located within the 5\u2032 splice site of intron 6, consistent with Danon disease.<\/jats:p>","DOI":"10.1111\/j.1399-3046.2007.00874.x","type":"journal-article","created":{"date-parts":[[2008,2,13]],"date-time":"2008-02-13T08:21:43Z","timestamp":1202890903000},"page":"246-250","source":"Crossref","is-referenced-by-count":18,"title":["Danon disease with typical early\u2010onset cardiomyopathy in a male: Focus on a novel LAMP\u20102 mutation"],"prefix":"10.1111","volume":"12","author":[{"given":"Yen K.","family":"Bui","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierangelo","family":"Renella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian 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