{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:15:17Z","timestamp":1790720117265,"version":"4.1.0"},"reference-count":23,"publisher":"Japanese Society of Internal Medicine","issue":"19","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2023,10,1]]},"DOI":"10.2169\/internalmedicine.0992-22","type":"journal-article","created":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T17:11:43Z","timestamp":1676394703000},"page":"2883-2887","source":"Crossref","is-referenced-by-count":9,"title":["The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a &lt;i&gt;de novo DES&lt;\/i&gt; p.R406W Mutation"],"prefix":"10.2169","volume":"62","author":[{"given":"Naoki","family":"Takegami","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Mitsutake","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuo","family":"Mano","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"},{"name":"Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukako","family":"Shintani-Domoto","sequence":"additional","affiliation":[{"name":"Department of Pathology, The University of Tokyo Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Unuma","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanaka","family":"Yamaguchi-Takegami","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Sakuishi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiko","family":"Ando","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruo","family":"Yamauchi","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minoru","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Morishita","sequence":"additional","affiliation":[{"name":"Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Mitsui","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"},{"name":"Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"},{"name":"Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan"},{"name":"Institute of Medical Genomics, International University of Health and Welfare, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsushi","family":"Toda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 21: 161-171, 2011.","DOI":"10.1016\/j.nmd.2010.12.007"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 18: 1306-1320, 1995.","DOI":"10.1002\/mus.880181114"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Herrmann H, Strelkov SV, Burkhard P, Aebi U. Intermediate filaments: primary determinants of cell architecture and plasticity. J Clin Invest 119: 1772-1783, 2009.","DOI":"10.1172\/JCI38214"},{"key":"4","doi-asserted-by":"publisher","unstructured":"4. Fischer D, Kley RA, Strach K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 71: 758-765, 2008.","DOI":"10.1212\/01.wnl.0000324927.28817.9b"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Oliv\u00e9 M, Armstrong J, Miralles F, et al. Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord 17: 443-450, 2007.","DOI":"10.1016\/j.nmd.2007.02.009"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JDH, et al. Desmin-related myopathy. Clin Genet 80: 354-366, 2011.","DOI":"10.1111\/j.1399-0004.2010.01512.x"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Kostera-Pruszczyk A, Pruszczyk P, Kami\u0144ska A, Lee H-S, Goldfarb LG. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 131: 146-147, 2008.","DOI":"10.1016\/j.ijcard.2007.08.095"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Shintani-Domoto Y, Hayasaka T, Maeda D, et al. Different desmin peptides are distinctly deposited in cytoplasmic aggregations and cytoplasm of desmin-related cardiomyopathy patients. Biochim Biophys Acta Proteins Proteom 1865: 828-836, 2017.","DOI":"10.1016\/j.bbapap.2017.03.006"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760, 2009.","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25: 2078-2079, 2009.","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Park KY, Dalakas MC, Semino-Mora C, et al. Sporadic cardiac and skeletal myopathy caused by a <i>de novo<\/i> desmin mutation. Clin Genet 57: 423-429, 2000.","DOI":"10.1034\/j.1399-0004.2000.570604.x"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Arbustini E, Pasotti M, Pilotto A, et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 8: 477-483, 2006.","DOI":"10.1016\/j.ejheart.2005.11.003"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Dalakas MC, Park K-Y, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342: 770-780, 2000.","DOI":"10.1056\/NEJM200003163421104"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Dagvadorj A, Oliv\u00e9 M, Urtizberea J-A, et al. A series of West European patients with severe cardiac and skeletal myopathy associated with a <i>de novo<\/i> R406W mutation in desmin. J Neurol 251: 143-149, 2004.","DOI":"10.1007\/s00415-004-0289-3"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Oliv\u00e9 M, Goldfarb L, Moreno D, et al. Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 219: 125-137, 2004.","DOI":"10.1016\/j.jns.2004.01.007"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Kub\u00e1nek M, Schimerov\u00e1 T, Piherov\u00e1 L, et al. Desminopathy: novel desmin variants, a new cardiac phenotype, and further evidence for secondary mitochondrial dysfunction. J Clin Med Res 9: 937, 2020.","DOI":"10.3390\/jcm9040937"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Herrmann H, Cabet E, Chevalier NR, et al. Dual functional states of R406W-desmin assembly complexes cause cardiomyopathy with severe intercalated disc derangement in humans and in knock-in mice. Circulation 142: 2155-2171, 2020.","DOI":"10.1161\/CIRCULATIONAHA.120.050218"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Goudeau B, Dagvadorj A, Rodrigues-Lima F, et al. Structural and functional analysis of a new desmin variant causing desmin-related myopathy. Hum Mutat 18: 388-396, 2001.","DOI":"10.1002\/humu.1210"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Berm\u00fadez-Jim\u00e9nez FJ, Carriel V, Brodehl A, et al. Novel desmin mutation p.Glu401Asp impairs filament formation, disrupts cell membrane integrity, and causes severe arrhythmogenic left ventricular cardiomyopathy\/dysplasia. Circulation 137: 1595-1610, 2018.","DOI":"10.1161\/CIRCULATIONAHA.117.028719"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Pawlak A, Rejmak-Kozicka E, Gil KE, Ziemba A, Kaczmarek L, Gil RJ. Patterns of desmin expression in idiopathic dilated cardiomyopathy are related to the desmin mRNA and ubiquitin expression. J Investig Med 67: 11-19, 2019.","DOI":"10.1136\/jim-2017-000707"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Francalanci P, Gallo P, Bernucci P, Silver MD, d&apos;Amati G. The pattern of desmin filaments in myocardial disarray. Hum Pathol 26: 262-266, 1995.","DOI":"10.1016\/0046-8177(95)90055-1"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Chourbagi O, Bruston F, Carinci M, et al. Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly. Exp Cell Res 317: 886-897, 2011.","DOI":"10.1016\/j.yexcr.2011.01.013"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Kedia N, Arhzaouy K, Pittman SK, et al. Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers. Proc Natl Acad Sci U S A 116: 16835-16840, 2019.","DOI":"10.1073\/pnas.1908263116"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/62\/19\/62_0992-22\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T00:29:05Z","timestamp":1715560145000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/62\/19\/62_0992-22\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,1]]},"references-count":23,"journal-issue":{"issue":"19","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.0992-22","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,1]]},"article-number":"0992-22"}}