{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:02:17Z","timestamp":1779789737147,"version":"3.53.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T00:00:00Z","timestamp":1754870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T00:00:00Z","timestamp":1754870400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Primary mitochondrial myopathies (PMMs), a group of genetic mitochondrial oxidative phosphorylation disorders, primarily affect skeletal muscle function. No approved treatments for PMM exist, and patient information is limited. The international RePOWER registry (NCT03048617) assessed genotypic and phenotypic relationships in PMM and identified patients for MMPOWER\u20103 (elamipretide Phase 3 study). RePOWER enrolled screened and ambulatory patients aged 16\u201380\u2009years. With signs and\/or symptoms of PMM (\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u2009376; 60.4% female; mean [SD] age 42.6 [14.4] years; ~75% with an mtDNA variant and ~25% with an nDNA variant). Baseline information, current symptoms, qualityoflife, and functional assessments (6\u2010Minute Walk Test [6MWT], Triple\u2010Timed Up\u2010and\u2010Go [3TUG] Test, and 5\u2010Times Sit\u2010to\u2010Stand Test [5XSST]) were captured. Accredited laboratory and genetic testing methods were available to most patients. The majority of enrolled PMM patients presented with progressive external ophthalmoplegia and fatigue. US patients were observed to use more medical interventions. Compared to non\u2010US patients, US patients did not perform as well on the 6MWT (mean 364.6 vs. 375.2\u2009m) and 5XSST (mean 21.6 vs. 18.6\u2009s); US patients performed better on the 3TUG test (mean 40.2 vs. 45.0\u2009s). The RePOWER registry provided data on patients with genetically confirmed PMM, thereby improving our understanding of PMM diagnosis and treatment and the differences in global mitochondrial clinical practice.\n                  <\/jats:p>","DOI":"10.1111\/cge.70026","type":"journal-article","created":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T07:58:48Z","timestamp":1754899128000},"page":"86-98","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>RePOWER<\/scp>\n                    : An International, Prospective, Non\u2010Interventional Registry of Patients With Primary Mitochondrial Myopathy"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5781-9824","authenticated-orcid":false,"given":"Amel","family":"Karaa","sequence":"first","affiliation":[{"name":"Massachusetts General Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Goldstein","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce H.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Rebecca D. Considine Research Institute and the Department of Pediatrics Akron Children's Hospital  Akron Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Haas","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California\u2010San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry","family":"Vockley","sequence":"additional","affiliation":[{"name":"Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gr\u00e1inne S.","family":"Gorman","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University  Newcastle Upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelangelo","family":"Mancuso","sequence":"additional","affiliation":[{"name":"Neurological Institute, Department of Clinical and Experimental Medicine (M.M.) University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the RePOWER, MMPOWER\u20103, and MOTOR investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.08.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24362"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2004.03.014"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2004.07.011"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/07853890.2011.605389"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12185"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.80"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022567"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105800"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11030632"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00674-4"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005255"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcsm.12559"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01006-8"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ehf2.12408"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012121216"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/bph.12468"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-020-1101-3"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000207402"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s41687-022-00534-y"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-011-9958-8"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318258f744"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-022-11324-3"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000519"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.03.001"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.161.2.9906015"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25700"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.2466\/pms.103.1.215-222"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/crt2.41"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03421-5"},{"key":"e_1_2_10_32_1","unstructured":"NuPower \u201cStudy to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease from Nuclear DNA Mutations (nPMD) (NuPower) \u201daccessed November 3 2023 https:\/\/clinicaltrials.gov\/ct2\/show\/NCT05162768."},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2022.05.001"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70026","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70026","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T09:03:10Z","timestamp":1779786190000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,11]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/cge.70026"],"URL":"https:\/\/doi.org\/10.1111\/cge.70026","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70026\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70026\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70026\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70026\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70026\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,11]]},"assertion":[{"value":"2025-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}