{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T15:04:49Z","timestamp":1788188689765,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T00:00:00Z","timestamp":1442188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in <jats:italic>SEPN1<\/jats:italic> (SEPN1\u2010RM). <jats:italic>Methods:<\/jats:italic> Whole\u2010body magnetic resonance imaging (WBMRI) was used in 9 patients using T1\u2010weighted turbo spin\u2013echo (T1\u2010TSE) sequences and short tau inversion recovery (STIR) in 5 patients. <jats:italic>Results:<\/jats:italic> Analysis of signal and volume abnormalities by T1\u2010TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. <jats:italic>Conclusions:<\/jats:italic> WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in <jats:italic>SEPN1\u2010RM,<\/jats:italic> distinct from other genetic muscle diseases. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>52<\/jats:bold>: 728\u2013735, 2015<\/jats:p>","DOI":"10.1002\/mus.24634","type":"journal-article","created":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T17:20:42Z","timestamp":1427217642000},"page":"728-735","source":"Crossref","is-referenced-by-count":53,"title":["Whole\u2010body muscle magnetic resonance imaging in <i>SEPN1<\/i>\u2010related myopathy shows a homogeneous and recognizable pattern"],"prefix":"10.1002","volume":"52","author":[{"given":"Karolina","family":"Hankiewicz","sequence":"first","affiliation":[{"name":"Assistance Publique des H\u00f4pitaux de Paris (AP\u2010HP), Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris\u2010Ile\u2010de\u2010France Ouest  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Y.","family":"Carlier","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service d'Imagerie M\u00e9dicale, P\u00f4le Neuro\u2010locomoteur, H\u00f4pital R. 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