{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:36:44Z","timestamp":1764995804458},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,4,16]],"date-time":"2010-04-16T00:00:00Z","timestamp":1271376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Danon disease is caused by deficiency of lysosome\u2010associated membrane protein\u20102 (LAMP\u20102). It is characterized clinically by cardiomyopathy, myopathy, and mental retardation in boys. Herein we report a 13\u2010year\u2010old female patient with Danon disease who presented with early\u2010onset skeletal myopathy and cardiomyopathy. She had a de novo novel mutation in the <jats:italic>LAMP2<\/jats:italic> gene, and her muscles showed many autophagic vacuoles with sarcolemmal features and complete absence of LAMP\u20102 expression. To the best of our knowledge, this girl is one of the earliest\u2010onset manifesting carriers of Danon disease with typical muscle pathology. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21614","type":"journal-article","created":{"date-parts":[[2010,4,16]],"date-time":"2010-04-16T16:42:46Z","timestamp":1271436166000},"page":"879-882","source":"Crossref","is-referenced-by-count":20,"title":["A 13\u2010year\u2010old girl with proximal weakness and hypertrophic cardiomyopathy with danon disease"],"prefix":"10.1002","volume":"41","author":[{"given":"Hunmin","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min Jung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong Seung","family":"Hwang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong\u2010Hee","family":"Chae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,4,16]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/35022604"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.06.004"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.6.513"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.04.010"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1773"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.050646"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00105-6"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/109.3.523"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)90025-6"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.09.008"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/35022595"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21614","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:25:16Z","timestamp":1696897516000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,16]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["10.1002\/mus.21614"],"URL":"https:\/\/doi.org\/10.1002\/mus.21614","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,16]]}}}