{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T04:49:52Z","timestamp":1776055792348,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["GU 1108\/4\u20101"],"award-info":[{"award-number":["GU 1108\/4\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["INST 271\/406\u20101 FUGG"],"award-info":[{"award-number":["INST 271\/406\u20101 FUGG"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias. A hallmark feature is the selective degeneration of type\u2010II fibers, likely driven by chronic myotonia and sustained metabolic stress. In this study, proton magnetic resonance spectroscopy (\n                      <jats:sup>1<\/jats:sup>\n                      H\u2010MRS) was applied to assess intramuscular carnosine as a potential noninvasive marker of type\u2010II fiber integrity, alongside extramyocellular lipids (EMCL) and intracellular pH. We hypothesized that carnosine would be reduced in PROMM as a consequence of type\u2010II fiber loss.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Seventy participants (27 genetically confirmed PROMM patients, 43 healthy volunteers) underwent localized\n                      <jats:sup>1<\/jats:sup>\n                      H\u2010MRS of the quadriceps muscle at 3 T using a short\u2010TE PRESS sequence. To ensure reliable carnosine quantification, spectra with voxel fat fraction \u2265\u200940% were excluded, yielding a final cohort of 19 patients and 19 matched healthy volunteers. Metabolites were quantified relative to total creatine, and exploratory correlations were assessed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      PROMM patients showed significantly reduced carnosine compared with healthy volunteers (\u221250%, 0.05\u2009\u00b1\u20090.03 vs. 0.10\u2009\u00b1\u20090.05;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0022) and markedly elevated EMCL (threefold, 150.6\u2009\u00b1\u200980.5 vs. 48.6\u2009\u00b1\u200938.4;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0007). Intracellular pH did not differ between groups. Exploratory analysis revealed a negative correlation between carnosine and EMCL (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u2009\u22120.50,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.03).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This pilot study demonstrates that\n                      <jats:sup>1<\/jats:sup>\n                      H\u2010MRS can detect reduced intramuscular carnosine in PROMM, consistent with selective type\u2010II\u2010fiber loss. Carnosine thus emerges as a potential in\u00a0vivo biomarker of fiber\u2010type\u2010specific degeneration. Validation in larger, longitudinal cohorts is warranted to establish its clinical and translational relevance.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70263","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T09:20:51Z","timestamp":1764062451000},"page":"788-795","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Reduced Muscular Carnosine in Proximal Myotonic Myopathy\u2014A Pilot\n                    <scp>\n                      <sup>1<\/sup>\n                      H\n                    <\/scp>\n                    \u2010\n                    <scp>MRS<\/scp>\n                    Study"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2300-4883","authenticated-orcid":false,"given":"Alexander","family":"Gussew","sequence":"first","affiliation":[{"name":"University Clinic and Outpatient Clinic for Radiology University Hospital Halle (Saale)  Halle (Saale) Germany"},{"name":"Halle MR Imaging Core Facility University Medicine Halle (Saale)  Halle (Saale) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Kargaran","sequence":"additional","affiliation":[{"name":"University Clinic and Outpatient Clinic for Radiology University Hospital Halle (Saale)  Halle (Saale) Germany"},{"name":"Halle MR Imaging Core Facility University Medicine Halle (Saale)  Halle (Saale) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maik","family":"Rothe","sequence":"additional","affiliation":[{"name":"University Clinic and Outpatient Clinic for Radiology University Hospital Halle (Saale)  Halle (Saale) Germany"},{"name":"Halle MR Imaging Core Facility University Medicine Halle (Saale)  Halle (Saale) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2427-1302","authenticated-orcid":false,"given":"Andreas","family":"Deistung","sequence":"additional","affiliation":[{"name":"University Clinic and Outpatient Clinic for Radiology University Hospital Halle (Saale)  Halle (Saale) Germany"},{"name":"Halle MR Imaging Core Facility University Medicine Halle (Saale)  Halle (Saale) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietrich","family":"Stoevesandt","sequence":"additional","affiliation":[{"name":"University Clinic and Outpatient Clinic for Radiology University Hospital Halle (Saale)  Halle (Saale) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter A.","family":"Wohlgemuth","sequence":"additional","affiliation":[{"name":"University Clinic and Outpatient Clinic for Radiology University Hospital Halle (Saale)  Halle (Saale) Germany"},{"name":"Halle MR Imaging Core Facility 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