{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T07:00:42Z","timestamp":1785049242843,"version":"3.55.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>\n                      Desminopathy is a myofibrillar myopathy caused by pathogenic variants in\n                      <jats:italic>DES<\/jats:italic>\n                      and characterized by heterogeneous clinical and imaging manifestations. Although preferential muscle involvement has been described, systematic whole\u2010body computed tomography (CT) analyses remain limited. This study aimed to characterize patterns of skeletal muscle involvement and imaging\u2010defined severity in desminopathy using whole\u2010body CT.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Whole\u2010body CT scans from 14 adults with\n                      <jats:italic>DES<\/jats:italic>\n                      \u2010related myopathy were evaluated using a modified Mercuri score across 43 muscles. Multivariate analyses were applied to characterize patterns of muscle involvement, define imaging\u2010based severity groups, and assess variable associations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fourteen adult patients (11 males, 3 females; age range 29\u201369\u2009years) with symptom duration ranging from 2 to 29\u2009years were included. Early involvement was observed across thigh musculature, with semitendinosus consistently affected. Extensor digitorum longus, fibularis brevis, and tibialis posterior demonstrated discriminatory utility across severity groups. Increasing severity was associated with broader involvement of thigh, gluteal, trunk, and lower\u2010leg muscles. Variant location showed domain\u2010associated tendencies, with Coil 2B variants associated with prominent vastus involvement and trunk\u2010directed patterns, whereas tail\u2010domain variants were associated with greater posterior thigh and trunk involvement. Side\u2010to\u2010side asymmetry occurred variably and was most consistently observed in tibialis anterior.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Whole\u2010body CT imaging delineates coordinated, severity\u2010dependent patterns of muscle involvement in desminopathy. Our work illustrates the value of whole\u2010body CT for characterizing global patterns of muscle involvement and for informing future imaging\u2010based studies in desminopathy, including larger cohorts and longitudinal investigations to better define disease progression and imaging biomarkers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.70272","type":"journal-article","created":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T10:37:08Z","timestamp":1778323028000},"page":"173-186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole\u2010Body Muscle Computed Tomography Study of Desminopathy\u2014A Case Series"],"prefix":"10.1002","volume":"74","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3314-218X","authenticated-orcid":false,"given":"Francia Victoria A.","family":"De Los Reyes","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,9]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003163421104"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2004.08.004"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-84847-1_11"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1057-6"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01512.x"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324927.28817.9b"},{"issue":"4","key":"e_1_2_13_8_1","article-title":"Neurological Phenotypes Associated With RYR1 Mutations","volume":"7","author":"Tasca G.","year":"2021","journal-title":"Neurology Genetics"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-008-1071-1"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nrl.2023.03.002"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000341617"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11906-9"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2025.106275"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256\u2010018\u20103050\u2010y"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jot.2018.10.004"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12891\u2010022\u201005032\u20102"},{"key":"e_1_2_13_17_1","unstructured":"G. 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