{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T04:12:28Z","timestamp":1792210348124,"version":"4.4.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"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":["J cachexia sarcopenia muscle"],"published-print":{"date-parts":[[2026,4]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n Myofibrillar myopathies (MFM) form a large group of clinically and genetically heterogeneous protein aggregate diseases. We investigated whether a novel quantitative MRI protocol can reveal new aspects of structural and biochemical muscle pathology in three classic MFM subtypes.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n MRI of the lower legs was performed in nine MFM patients with filamin\u2010C (\n FLNC<\/jats:italic>\n ;\n n<\/jats:italic>\n \u2009=\u20095), desmin (\n DES<\/jats:italic>\n ,\n n<\/jats:italic>\n \u2009=\u20092) and LIM domain binding 3 (\n LDB3<\/jats:italic>\n ;\n n<\/jats:italic>\n \u2009=\u20092) gene mutations, one patient with non\u2010MFM, filamin\u2010C related distal myopathy (4 males, 6 females, 51.0\u2009\u00b1\u20097.7\u2009years) and 10 age\u2010matched healthy control subjects (5 males, 5 females, 50.0\u2009\u00b1\u200911.0\u2009years).\n 1<\/jats:sup>\n H MRI at 3\u2009T addressed fatty replacement and edema\u2010like changes as well as quantitative measurements of proton density fat fraction (PDFF) and water T\n 2<\/jats:sub>\n relaxation times.\n 39<\/jats:sup>\n K\/\n 23<\/jats:sup>\n Na MRI at 7\u2009T was employed to determine apparent tissue potassium and tissue sodium concentrations (aTPC\/aTSC).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n T\n 1<\/jats:sub>\n \u2010weighted and T\n 2<\/jats:sub>\n \u2010weighted STIR imaging showed the highest degree of fat replacement in the soleus and gastrocnemius medialis muscle regions and the highest degree of edema\u2010like changes in the extensor regions in all 10 myopathy patients. The lowest degree of fat replacement and edema\u2010like changes was present in the gastrocnemius lateralis muscles. Marked fatty replacement of peroneus muscles was also present in DES\u2010related MFM and\n FLNC<\/jats:italic>\n \u2010related distal myopathy. Muscular PDFF values were significantly increased in all MFM patients (\n p<\/jats:italic>\n \u2009=\u20090.003 \u2010\u2009<\u20090.001) with 60 and 35 of 63 muscles analysed showing increased mean PDFF (>\u200910% and >\u200950%). When excluding the muscles with PDFF >\u200950%, the median water T\n 2<\/jats:sub>\n was significantly increased in all muscle regions of MFM patients with the exception of the tibialis anterior and posterior muscles. Fat\u2010corrected aTSC values in MFM patients were significantly increased compared to healthy controls (55.6\u2009\u00b1\u200916.3\u2009mM vs. 23.2\u2009\u00b1\u20095.5\u2009mM,\n p<\/jats:italic>\n \u2009<\u20090.001) in all muscles but peroneus muscles, whereas fat\u2010corrected aTPC values were reduced in all muscles except for gastrocnemius lateralis, tibialis posterior and peroneus muscles (75.4\u2009\u00b1\u200913.3\u2009mM vs. 108.9\u2009\u00b1\u20099.9\u2009mM,\n p<\/jats:italic>\n \u2009<\u20090.001).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Quantitative PDFF measurements and water T\n 2<\/jats:sub>\n mapping serve as valuable tools to objectively quantify fat and edema\u2010like changes in MFM. Furthermore, changes in potassium\/sodium ion balance in the lower leg muscles of MFM patients could serve as new markers to quantify the extent of biochemical changes in individual muscle regions. Further longitudinal evaluation is required to validate whether they are sensitive to changes prior to a high degree of fat replacement.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jcsm.70245","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:26:45Z","timestamp":1773923205000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Multi\u2010Parametric MRI Approach at 3\u2009T and 7\u2009T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study"],"prefix":"10.1002","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6834-3355","authenticated-orcid":false,"given":"Claudius\u00a0S.","family":"Mathy","sequence":"first","affiliation":[{"name":"Institute of Radiology Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen 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Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Stuprich","sequence":"additional","affiliation":[{"name":"Institute of Radiology Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"T\u00fcrk","sequence":"additional","affiliation":[{"name":"Department of Neurology Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen Germany"},{"name":"Centre for Rare Diseases Erlangen (ZSEER), Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Heiss","sequence":"additional","affiliation":[{"name":"Institute of Radiology Universit\u00e4tsklinikum Erlangen, 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Department of Neurology Medical University of Vienna Vienna Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnd","family":"D\u00f6rfler","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Universit\u00e4tsklinikum, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Uder","sequence":"additional","affiliation":[{"name":"Institute of Radiology Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"B\u00e4uerle","sequence":"additional","affiliation":[{"name":"Institute of Radiology Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU) Erlangen Germany"},{"name":"Department of Diagnostic 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