{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T02:00:38Z","timestamp":1791165638541,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,4,16]],"date-time":"2009-04-16T00:00:00Z","timestamp":1239840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Universit\u00e9 Paul Sabatier"},{"name":"VML"},{"name":"Research project","award":["MSM 0021620806"],"award-info":[{"award-number":["MSM 0021620806"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The <jats:italic>LAMP2<\/jats:italic> mutation carried by one patient (c.928G&gt;A) has already been reported but with different symptoms. The second patient had a novel point deletion. This has not been described previously, but it could be detected easily by restriction analysis. This mutation was also found in the patient's brother, and it was associated with severe cardiomyopathy leading to heart failure. Surprisingly, the proband also had partial reduction of \u03b1\u2010galactosidase A activity, despite the absence of characteristic clinical features of Fabry disease. A substitution in the <jats:italic>GLA<\/jats:italic> gene (c.937G&gt;T) was found, and its involvement in the cardiac disease is discussed. Muscle Nerve, 2009<\/jats:p>","DOI":"10.1002\/mus.21252","type":"journal-article","created":{"date-parts":[[2009,4,16]],"date-time":"2009-04-16T15:19:03Z","timestamp":1239895143000},"page":"837-844","source":"Crossref","is-referenced-by-count":17,"title":["Danon disease: Further clinical and molecular heterogeneity"],"prefix":"10.1002","volume":"39","author":[{"given":"Fr\u00e9d\u00e9rique","family":"Sabourdy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Michelakakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aris","family":"Anastasakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Mavridou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Nieto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Claude","family":"Pons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos","family":"Skiadas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Moraitou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiota","family":"Manta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Elleder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,4,16]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033349"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1678-z"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-872844"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2007.00874.x"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.03.011"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2003.029504"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.1.51"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20471"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01606034"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e02-02-0114"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.050646"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00136-7"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-43262"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006151200"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.167.3922.1268"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00179-7"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012428009627"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.12.007"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00046-C"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.02.008"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20930"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/35022604"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.4161\/auto.5724"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1773"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10235"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0184-8"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.09.008"},{"key":"e_1_2_7_31_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000309219.61785.b3"},{"key":"e_1_2_7_32_2","first-page":"587","volume-title":"Techniques in diagnostic human biochemical genetics","author":"Wenger DA","year":"1991"},{"key":"e_1_2_7_33_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.546481"},{"key":"e_1_2_7_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10275"}],"container-title":["Muscle &amp; 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