{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T23:25:33Z","timestamp":1788391533809,"version":"build-2803163510"},"reference-count":22,"publisher":"Japanese Circulation Society","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ J"],"published-print":{"date-parts":[[2009]]},"DOI":"10.1253\/circj.cj-08-0722","type":"journal-article","created":{"date-parts":[[2008,12,25]],"date-time":"2008-12-25T05:55:49Z","timestamp":1230184549000},"page":"158-161","source":"Crossref","is-referenced-by-count":18,"title":["Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy"],"prefix":"10.1253","volume":"73","author":[{"given":"Takuro","family":"Arimura","sequence":"first","affiliation":[{"name":"Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko K.","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terumi","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Oya","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry (NCNP)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Funabe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eri","family":"Arikawa-Hirasawa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobutaka","family":"Hattori","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinori","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University"},{"name":"Laboratory of Genome Diversity, School of Biomedical Science, Tokyo Medical and Dental University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"330","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.174287"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992; 326: 77-82.","DOI":"10.1056\/NEJM199201093260201"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Kimura A. Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J 2008; 72(Suppl): A-38-A-48.","DOI":"10.1253\/circj.CJ-08-0050"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.1221"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2002.6448"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71: 492-500.","DOI":"10.1086\/342380"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.08.058"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/72822"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. McNally E, Allikian M, Wheeler MT, Mislow JM, Heydemann A. Cytoskeletal defects in cardiomyopathy. J Mol Cell Cardiol 2003; 35: 231-241.","DOI":"10.1016\/S0022-2828(03)00018-X"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981; 3: 1-29.","DOI":"10.1016\/S0387-7604(81)80002-2"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050384"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/28653"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 1999; 8: 2303-2309.","DOI":"10.1093\/hmg\/8.12.2303"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20973"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M311849200"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A 2004; 127: 54-57.","DOI":"10.1002\/ajmg.a.20669"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Watanabe M, Kobayashi K, Jin F, Park KS, Yamada T, Tokunaga K, et al. Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. Am J Med Genet A 2005; 138: 344-348.","DOI":"10.1002\/ajmg.a.30978"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol 2003; 53: 392-396.","DOI":"10.1002\/ana.10491"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006; 60: 603-610.","DOI":"10.1002\/ana.21006"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.09.006"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993; 43: 2342-2345.","DOI":"10.1212\/WNL.43.11.2342"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00153-1"}],"container-title":["Circulation Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/circj\/73\/1\/73_CJ-08-0722\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T03:47:21Z","timestamp":1616644041000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/circj\/73\/1\/73_CJ-08-0722\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009]]}},"URL":"https:\/\/doi.org\/10.1253\/circj.cj-08-0722","relation":{},"ISSN":["1346-9843","1347-4820"],"issn-type":[{"value":"1346-9843","type":"print"},{"value":"1347-4820","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009]]}}}