{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T15:45:55Z","timestamp":1793202355098,"version":"4.5.0"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"11","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2005,9,13]]},"abstract":"<jats:p>\n                    <jats:bold>\n                      <jats:italic>Background\u2014<\/jats:italic>\n                    <\/jats:bold>\n                    Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome; mutations in the gene encoding the lysosome-associated protein-2 (LAMP-2) have been identified in these patients, suggesting that some of these patients have Danon disease. In this study we investigated the frequency of\n                    <jats:italic>LAMP2<\/jats:italic>\n                    mutations in an unselected pediatric HCM population.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>\n                      <jats:italic>Methods and Results\u2014<\/jats:italic>\n                    <\/jats:bold>\n                    <jats:italic>LAMP2<\/jats:italic>\n                    was amplified from genomic DNA isolated from peripheral lymphocytes of 50 patients diagnosed with HCM and analyzed by direct DNA sequencing. In 2 of the 50 probands (4%), nonsense mutations were identified. In 1 family the proband initially presented with HCM as a teenager, which progressed to dilated cardiomyopathy (DCM) and heart failure. Skeletal myopathy and WPW were also noted. The teenage sister of the proband is a carrier of the same\n                    <jats:italic>LAMP2<\/jats:italic>\n                    mutation and has HCM without skeletal myopathy or WPW. The other proband presented with HCM, WPW, and skeletal myopathy as a teenager, whereas his carrier mother developed DCM during her 40s. Skeletal and cardiac muscle sections revealed the absence of LAMP-2 on immunohistochemical staining.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>\n                      <jats:italic>Conclusions\u2014<\/jats:italic>\n                    <\/jats:bold>\n                    <jats:italic>LAMP2<\/jats:italic>\n                    mutations may account for a significant proportion of cases of HCM in children, especially when skeletal myopathy and\/or WPW is present, suggesting that Danon disease is an underrecognized entity in the pediatric cardiology community.\n                  <\/jats:p>","DOI":"10.1161\/circulationaha.105.546481","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T20:44:05Z","timestamp":1126039445000},"page":"1612-1617","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":161,"title":["Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children"],"prefix":"10.1161","volume":"112","author":[{"given":"Zhao","family":"Yang","sequence":"first","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin J.","family":"McMahon","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liana R.","family":"Smith","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeathrina","family":"Bersola","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adekunle M.","family":"Adesina","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.","family":"Breinholt","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra L.","family":"Kearney","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Dreyer","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan W.","family":"Denfield","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack F.","family":"Price","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Grenier","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi J.","family":"Kertesz","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah K.","family":"Clunie","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan D.","family":"Fernbach","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Southern","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Berger","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey A.","family":"Towbin","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karla R.","family":"Bowles","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil E.","family":"Bowles","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (Cardiovascular Sciences Program) (Z.Y., J.A.T.), Pediatrics (Section of Cardiology) (C.J.M., L.R.S., J.B., J.P.B., W.J.D., S.W.D., J.F.P., M.G., N.J.K., S.K.C., J.A.T., K.R.B., N.E.B.), Pathology (A.M.A., D.L.K.), and Molecular and Human Genetics (S.D.F., J.A.T.), Baylor College of Medicine, Houston, Tex; and Departments of Pathology (J.F.S.) and Cardiology (S.B.), Children\u2019s Hospital of Wisconsin, Milwaukee."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.287.10.1308"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11886-000-0010-9"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1215"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200106143442403"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000012626.81324.38"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2003.029504"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/35022604"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.1.51"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1773"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.7.873"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00242-1"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00179-7"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033349"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)90025-6"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1253\/jcj.65.965"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000075270.13497.2b"}],"container-title":["Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCULATIONAHA.105.546481","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T01:09:56Z","timestamp":1715562596000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCULATIONAHA.105.546481"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,13]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2005,9,13]]}},"alternative-id":["10.1161\/CIRCULATIONAHA.105.546481"],"URL":"https:\/\/doi.org\/10.1161\/circulationaha.105.546481","relation":{},"ISSN":["0009-7322","1524-4539"],"issn-type":[{"value":"0009-7322","type":"print"},{"value":"1524-4539","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,13]]},"assertion":[{"value":"2005-09-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}