{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:24:17Z","timestamp":1787163857616,"version":"build-2736575974"},"reference-count":52,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"the Deutsche Gesellschaft f\u00fcr Muskelkranke"},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["ERDF; project NME-GPS and B2B-RARE"],"award-info":[{"award-number":["ERDF; project NME-GPS and B2B-RARE"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the \u201cMinisterium f\u00fcr Kultur und Wissenschaft des Landes Nordrhein-Westfalen\u201d and \u201cDer Regierende B\u00fcrgermeister von Berlin, Senatskanzlei Wissenschaft und Forschung\u201d"},{"name":"Wellcome Discovery Award","award":["226653\/Z\/22\/Z"],"award-info":[{"award-number":["226653\/Z\/22\/Z"]}]},{"DOI":"10.13039\/501100000833","name":"the Rosetrees Trust","doi-asserted-by":"crossref","award":["PGL23\/100048"],"award-info":[{"award-number":["PGL23\/100048"]}],"id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the LifeArc Centre to Treat Mitochondrial Diseases"},{"DOI":"10.13039\/501100000265","name":"the Medical Research Council","doi-asserted-by":"crossref","award":["MR\/V009346\/1"],"award-info":[{"award-number":["MR\/V009346\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the Hereditary Neuropathy Foundation, the AFM-Telethon, the Ataxia UK, the Action for AT, the Muscular Dystrophy UK"},{"name":"the UKRI\/Horizon Europe Guarantee MSCA Doctoral Network Programme","award":["Project 101120256: MMM"],"award-info":[{"award-number":["Project 101120256: MMM"]}]},{"DOI":"10.13039\/501100018956","name":"NIHR Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203312"],"award-info":[{"award-number":["NIHR203312"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Clinical Research Career Development Fellowship","award":["219615\/Z\/19\/Z"],"award-info":[{"award-number":["219615\/Z\/19\/Z"]}]},{"name":"the Medical Research Council (MRC) to the MRC Mitochondrial Biology Unit","award":["MC_UU_00028\/8"],"award-info":[{"award-number":["MC_UU_00028\/8"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Biallelic pathogenic variants in SORD (Sorbitoldehydrongenase gene), encoding sorbitol dehydrogenase, are a common cause of autosomal recessive axonal Charcot-Marie-Tooth disease type 2 (CMT2). Recent evidence suggests direct involvement of skeletal muscle in addition to peripheral nerve degeneration. We investigated muscle biopsies from 4 genetically confirmed CMT-SORD patients using an integrative approach. Histological evaluation revealed features of chronic denervation with grouped fiber atrophy, fiber-type grouping and central nuclei, ie, non-specific neurogenic muscle atrophy. Ultrastructural studies demonstrated mitochondrial abnormalities and expansion of the sarcoplasmic reticulum (SR). Proteomic profiling identified 220 significantly dysregulated proteins in CMT-SORD muscle, including alterations in mitochondrial complex I components, redox enzymes, and metabolic regulators distinct from changes observed in other rare recessive CMTs. Quantitative PCR validated increased levels of NNMT, POSTN, TACO1, as well as complement and immunomodulatory factors, suggesting mitochondrial stress, compensatory metabolic activation and tissue remodeling. Despite mitochondrial vulnerability, serum studies indicated that GDF-15 and FGF-21 did not appear to be suitable biomarkers for CMT-SORD. These findings demonstrate that SORD deficiency induces molecular and structural changes in skeletal muscle that extend beyond denervation, implicating impaired sorbitol metabolism, oxidative stress, and mitochondrial dysfunction as intrinsic myopathic features of SORD-related CMT2. They indicate the need for therapeutic strategies targeting both neuronal and muscular compartments.<\/jats:p>","DOI":"10.1093\/jnen\/nlag057","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T11:44:22Z","timestamp":1778845462000},"source":"Crossref","is-referenced-by-count":0,"title":["When muscles matter in SORD neuropathy"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9629-7053","authenticated-orcid":false,"given":"Heike","family":"K\u00f6lbel","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen , Essen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibniz-Institut f\u00fcr Analytische Wissenschaften-ISAS-e.V. , Dortmund,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Preu\u00dfe","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health (BIH) , Berlin,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May","family":"Tiet","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, School of Clinical Medicine, John Van Geest Centre for Brain Repair, University of Cambridge , Cambridge,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maike F","family":"Dohrn","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty, RWTH Aachen University , Aachen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Muhmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen , Essen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelle","family":"van den Ameele","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, School of Clinical Medicine, John Van Geest Centre for Brain Repair, University of Cambridge , Cambridge,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen , Essen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen , Essen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Medical Faculty, RWTH Aachen University , Aachen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, School of Clinical Medicine, John Van Geest Centre for Brain Repair, University of Cambridge , Cambridge,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Mensch","sequence":"additional","affiliation":[{"name":"Department of Neurology, Martin-Luther-University of Halle-Wittenberg , Halle (Saale),","place":["Germany"]},{"name":"Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr University Bochum , Bochum,","place":["Germany"]},{"name":"Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil , Bochum,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen , Essen,","place":["Germany"]},{"name":"Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr University Bochum , Bochum,","place":["Germany"]},{"name":"Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil , Bochum,","place":["Germany"]},{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , 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