{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:35:19Z","timestamp":1764995719608,"version":"build-2065373602"},"reference-count":23,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1016\/j.nmd.2007.09.008","type":"journal-article","created":{"date-parts":[[2008,3,7]],"date-time":"2008-03-07T15:13:33Z","timestamp":1204902813000},"page":"167-174","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Danon disease: A novel Lamp-2 gene mutation in a family with four affected members"],"prefix":"10.1016","volume":"18","author":[{"given":"T.","family":"Tu\u00f1\u00f3n","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Guerrero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Urchaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Ayuso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Caballero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Berj\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Imizcoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2007.09.008_bib1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s11910-003-0040-y","article-title":"Autophagic vacuolar myopathies","volume":"3","author":"Nishino","year":"2003","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.nmd.2007.09.008_bib2","doi-asserted-by":"crossref","unstructured":"Neuromuscular disorders: Gene location. Table prepared by JC Kaplan. Neuromusc Disord 2006; 16(1):64-90.","DOI":"10.1016\/S0960-8966(05)00338-X"},{"issue":"1","key":"10.1016\/j.nmd.2007.09.008_bib3","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/WNL.31.1.51","article-title":"Lysosomal glycogen storage disease with normal acid maltase","volume":"31","author":"Danon","year":"1981","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.nmd.2007.09.008_bib4","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.ophtha.2006.02.030","article-title":"Ophthalmic manifestations of Danon disease","volume":"113","author":"Prall","year":"2006","journal-title":"Ophthalmology"},{"issue":"8","key":"10.1016\/j.nmd.2007.09.008_bib5","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1136\/hrt.2003.029504","article-title":"Danon\u2019s disease as a cause of hypertrophic cardiomyopathy: a systematic survey","volume":"90","author":"Charron","year":"2004","journal-title":"Heart"},{"key":"10.1016\/j.nmd.2007.09.008_bib6","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2007.09.008_bib7","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s00431-005-1678-z","article-title":"Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene","volume":"164","author":"Balmer","year":"2005","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nmd.2007.09.008_bib8","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/S0960-8966(02)00179-7","article-title":"Danon\u2019s disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation","volume":"12","author":"Lacoste-Collin","year":"2002","journal-title":"Neuromusc Disord"},{"issue":"9","key":"10.1016\/j.nmd.2007.09.008_bib9","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1016\/S0960-8966(03)00105-6","article-title":"Characterization of Danon disease in a male patient and his affected mother","volume":"13","author":"Sugie","year":"2003","journal-title":"Neuromusc Disord"},{"issue":"4","key":"10.1016\/j.nmd.2007.09.008_bib10","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.nmd.2004.12.007","article-title":"Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)","volume":"15","author":"Lobrinus","year":"2005","journal-title":"Neuromusc Disord"},{"key":"10.1016\/j.nmd.2007.09.008_bib11","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1212\/WNL.58.12.1773","article-title":"Clinicopathological features of genetically confirmed Danon disease","volume":"58","author":"Sugie","year":"2002","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.nmd.2007.09.008_bib12","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1056\/NEJMoa033349","article-title":"Glycogen storage diseases presenting as hypertrophic cardiomyopathy","volume":"352","author":"Arad","year":"2005","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.nmd.2007.09.008_bib13","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/jnen\/64.6.513","article-title":"Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies","volume":"64","author":"Sugie","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2007.09.008_bib14","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1055\/s-2001-17946","article-title":"Histopathological features of peripheral nerve and muscle in mitochondrial disease","volume":"21","author":"Sladky","year":"2001","journal-title":"Semin Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2007.09.008_bib15","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/S0960-8966(98)00117-5","article-title":"Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle","volume":"9","author":"Fernandez","year":"1999","journal-title":"Neuromusc Disord"},{"issue":"1","key":"10.1016\/j.nmd.2007.09.008_bib16","first-page":"38","article-title":"Mitochondrial paracrystalline inclusions in the peroneus brevis muscle of patients with peripheral neuropathy","volume":"6","author":"Marbini","year":"1987","journal-title":"Clin Neuropathol"},{"issue":"4","key":"10.1016\/j.nmd.2007.09.008_bib17","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1212\/WNL.59.4.617","article-title":"Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL","volume":"59","author":"Malandrini","year":"2002","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.nmd.2007.09.008_bib18","doi-asserted-by":"crossref","first-page":"67","DOI":"10.3109\/01913129609023240","article-title":"Selective diaphragmatic mitochondrial abnormalities in a patient with marked air flow obstruction","volume":"20","author":"Lloreta","year":"1996","journal-title":"Ultrastruct Pathol"},{"issue":"7792","key":"10.1016\/j.nmd.2007.09.008_bib19","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/S0140-6736(72)92985-6","article-title":"Intramitochondrial paracrystalline inclusions in hepatocytes of patients with biliary lithiasis","volume":"2","author":"Gomez L\u00e0zaro","year":"1972","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.nmd.2007.09.008_bib20","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/mus.20020","article-title":"Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation","volume":"29","author":"Tarnopolsky","year":"2004","journal-title":"Muscle Nerve"},{"issue":"16","key":"10.1016\/j.nmd.2007.09.008_bib21","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1056\/NEJM199004193221602","article-title":"Mitochondrial myopathy caused by long-term zidovudine therapy","volume":"322","author":"Dalakas","year":"1990","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.nmd.2007.09.008_bib22","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/mus.20471","article-title":"Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease","volume":"33","author":"Echaniz-Laguna","year":"2006","journal-title":"Muscle Nerve"},{"issue":"11","key":"10.1016\/j.nmd.2007.09.008_bib23","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1161\/CIRCULATIONAHA.105.546481","article-title":"Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children","volume":"112","author":"Yang","year":"2005","journal-title":"Circulation"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607007286?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607007286?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:55:37Z","timestamp":1760774137000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896607007286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["S0960896607007286"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2007.09.008","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2008,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Danon disease: A novel Lamp-2 gene mutation in a family with four affected members","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2007.09.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}