{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T05:50:56Z","timestamp":1781934656939,"version":"3.54.5"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:00:00Z","timestamp":1776038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:00:00Z","timestamp":1776038400000},"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                      Variants in the\n                      <jats:italic>SELENON<\/jats:italic>\n                      gene cause a myopathy with axial weakness, scoliosis, and respiratory failure. This study aimed to characterize the temporal and spatial distribution of fat replacement across the whole body in patients with SELENON\u2010related myopathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a retrospective study of genetically confirmed SELENON\u2010related myopathy patients at a single center who had available whole\u2010body skeletal muscle computed tomography or magnetic resonance imaging data. The degree of fat replacement in 47 skeletal muscles was scored using the modified Mercuri score (mMS). Spatial and temporal progression patterns of fat replacement were identified using k\u2010means clustering and hierarchical clustering.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The time\u2010series imaging data from a single patient revealed that muscles could be classified into four patterns: those showing fatty replacement from the initial stage, those that undergo fatty replacement in the early phases, those affected in the advanced stages, and those that show minimal fatty replacement throughout the disease course. In the early stage, fat replacement was most prominent in axial and hip girdle muscles. Subsequently, thigh muscles were affected. In contrast, the muscles of the arms and lower legs were preserved even in advanced\u2010stage patients. The whole\u2010body mMS increased linearly with age. No significant correlations were observed between the mMS and walking ability or respiratory function.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Fat replacement progresses with age, and serial imaging over time may allow more accurate prediction of muscle\u2010specific involvement. These data may be useful for monitoring disease progression and serve as potential biomarkers for future therapeutic interventions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.70244","type":"journal-article","created":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T06:15:16Z","timestamp":1776147316000},"page":"38-46","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spatiotemporal Patterns of Fat Replacement in\n                    <scp>SELENON<\/scp>\n                    \u2010Related Myopathy: A Whole\u2010Body Imaging Study"],"prefix":"10.1002","volume":"74","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":[{"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\/0000-0003-0724-0018","authenticated-orcid":false,"given":"Wakako","family":"Yoshioka","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"}]},{"given":"Hotake","family":"Takizawa","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center Hospital National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Oya","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center Hospital National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center Hospital National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9305-7131","authenticated-orcid":false,"given":"Noriko","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Radiology, National Center Hospital National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Radiology, National Center Hospital 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\/0000-0001-9452-112X","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 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