{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:09:19Z","timestamp":1792804159428,"version":"4.5.0"},"reference-count":21,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T00:00:00Z","timestamp":1679443200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III (ISCIII)","doi-asserted-by":"publisher","award":["PI18_01374"],"award-info":[{"award-number":["PI18_01374"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Primary mitochondrial myopathies (PMM) are a clinically and genetically highly heterogeneous group that, in some cases, may manifest exclusively as fatigue and exercise intolerance, with minimal or no signs on examination. On these occasions, the symptoms can be confused with the much more common chronic fatigue syndrome (CFS). Nonetheless, other possibilities must be excluded for the final diagnosis of CFS, with PMM being one of the primary differential diagnoses. For this reason, many patients with CFS undergo extensive studies, including extensive genetic testing and muscle biopsies, to rule out this possibility. This study evaluated the diagnostic performance of growth differentiation factor-15 (GDF-15) as a potential biomarker to distinguish which patient with chronic fatigue has a mitochondrial disorder. We studied 34 adult patients with symptoms of fatigue and exercise intolerance with a definitive diagnosis of PMM (7), CFS (22), or other non-mitochondrial disorders (5). The results indicate that GDF-15 can accurately discriminate between patients with PMM and CFS (AUC = 0.95) and between PMM and patients with fatigue due to other non-mitochondrial disorders (AUC = 0.94). Therefore, GDF-15 emerges as a promising biomarker to select which patients with fatigue should undergo further studies to exclude mitochondrial disease.<\/jats:p>","DOI":"10.3390\/jcm12062435","type":"journal-article","created":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T07:46:43Z","timestamp":1679471203000},"page":"2435","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome"],"prefix":"10.3390","volume":"12","author":[{"given":"Laura","family":"Bermejo-Guerrero","sequence":"first","affiliation":[{"name":"Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Pablo","family":"de Fuenmayor-Fern\u00e1ndez de la Hoz","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Paz","family":"Guerrero-Molina","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6892-3632","authenticated-orcid":false,"given":"Paloma","family":"Mart\u00edn-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6479-3615","authenticated-orcid":false,"given":"Alberto","family":"Bl\u00e1zquez","sequence":"additional","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Clinical Research Unit, Hospital 12 de Octubre Research Institute (imas12), 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5661-7574","authenticated-orcid":false,"given":"Pablo","family":"Serrano-Lorenzo","sequence":"additional","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Clinical Research Unit, Hospital 12 de Octubre Research Institute (imas12), 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3317-5689","authenticated-orcid":false,"given":"David","family":"Lora","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Hospital 12 de Octubre Research Institute (imas12), 28041 Madrid, Spain"},{"name":"Department of Statistics and Data Science, Facultad de Estudios Estad\u00edsticos, Universidad Complutense de Madrid, 28040 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Epidemiolog\u00eda y Salud P\u00fablica (CIBERESP), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Morales-Conejo","sequence":"additional","affiliation":[{"name":"Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain"},{"name":"Internal Medicine Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Congenital Metabolic Defects Group, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Gonz\u00e1lez-Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Ana","family":"L\u00f3pez-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4741-772X","authenticated-orcid":false,"given":"Miguel 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