{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T17:28:42Z","timestamp":1776187722882,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100009438","name":"National Center of Neurology and Psychiatry","doi-asserted-by":"publisher","award":["5\u20105"],"award-info":[{"award-number":["5\u20105"]}],"id":[{"id":"10.13039\/501100009438","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009438","name":"National Center of Neurology and Psychiatry","doi-asserted-by":"publisher","award":["5\u20106"],"award-info":[{"award-number":["5\u20106"]}],"id":[{"id":"10.13039\/501100009438","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH23FC1014"],"award-info":[{"award-number":["JPMH23FC1014"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,3]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aim<\/jats:title>\n \n Variants in the\n EMD<\/jats:italic>\n gene cause Emery\u2013Dreifuss muscular dystrophy type 1 (EDMD1). While the pattern of fat replacement in the legs of patients with EDMD1 is known, the involvement of the trunk and arms remains unclear. This study aimed to characterize the whole\u2010body distribution of fatty replacement in EDMD1 and clarify its relationship with clinical symptoms.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Imaging data from eight Japanese EDMD1 patients was analyzed. Fatty replacement in 47 skeletal muscles was scored using the modified Mercuri score (mMS). Hierarchical clustering classified patients according to mMS, and intercluster differences were assessed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Fatty replacement was observed in the soleus and paraspinal muscles in all patients, as well as in the medial gastrocnemius, semimembranosus (Sm), biceps femoris long head (BFL), serratus anterior (SA), and biceps brachii (BB) in seven patients. A significant difference in mMS was observed between the low\u2010 and high\u2010score groups in the SA (\n p<\/jats:italic>\n \u2009=\u20090.0042), BB (\n p<\/jats:italic>\n \u2009=\u20090.0031), semitendinosus (\n p<\/jats:italic>\n \u2009=\u20090.0015), Sm (\n p<\/jats:italic>\n \u2009<\u20090.0005), and BFL (\n p<\/jats:italic>\n \u2009=\u20090.0031). Elbow flexion strength on manual muscle testing strongly correlated with BB mMS (\n p<\/jats:italic>\n \u2009=\u20090.03,\n r<\/jats:italic>\n \u2009=\u2009\u22120.75). The patient with a missense variant had a lower mMS than those with truncating variants.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n Elbow flexion strength is a potential marker of disease severity. The finding that the patient with a missense variant had a lower mMS supports previous reports that missense variants are associated with milder phenotypes. Genetic variant type should be considered in biomarker development for EDMD1.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70109","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T11:51:17Z","timestamp":1767786677000},"page":"471-479","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery\u2013Dreifuss Muscular Dystrophy Caused by\n \n EMD<\/i>\n <\/scp>\n Variants"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6870-2840","authenticated-orcid":false,"given":"Rui","family":"Shimazaki","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan"},{"name":"Department of Genome Medicine Development, Medical Genome Center National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6165-3716","authenticated-orcid":false,"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichiro","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan"},{"name":"Department of Genome Medicine Development, Medical Genome Center National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00121-7"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-323"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2013.12.008"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.10.637"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00105-X"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.09.001"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.001"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2019.105536"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.06.009"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-220823"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0043-1768989"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11906-9"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_12_16_1","first-page":"1138","article-title":"A Novel Splice\u2010Site Mutation in the STA Gene in a Japanese Patient With Emery\u2010Dreifuss Muscular Dystrophy","volume":"39","author":"Hasegawa T.","year":"1999","journal-title":"Rinsh\u014d Shinkeigaku"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26782"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2021.668231"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13030660"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050946"},{"key":"e_1_2_12_21_1","first-page":"159","article-title":"Emerinopathy and Laminopathy Clinical, Pathological and Molecular Features of Muscular Dystrophy With Nuclear Envelopathy in Japan","volume":"26","author":"Astejada M. N.","year":"2007","journal-title":"Acta Myologica"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51834"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21514"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307245"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24634"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/19491034.2018.1467722"}],"container-title":["Muscle & Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70109","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.70109","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,15]],"date-time":"2026-02-15T13:41:43Z","timestamp":1771162903000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.70109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,7]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/mus.70109"],"URL":"https:\/\/doi.org\/10.1002\/mus.70109","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,7]]},"assertion":[{"value":"2025-06-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}