{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T10:52:25Z","timestamp":1782298345685,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:00:00Z","timestamp":1691712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial myopathy is a severe metabolic myopathy related to nuclear or mitochondrial DNA dysfunction. We present a rare case of mitochondrial myopathy, presented with multiple episodes of proximal muscle weakness, lactic acidosis, and severe rhabdomyolysis (CPK 319,990\u2009U\/L, lactic acid 22.31\u2009mmol\/L, and GFR 3.82\u2009mL\/min\/1.73m<jats:sup>2<\/jats:sup>). She was hospitalized in the pediatric intensive care unit due to acute kidney injury, elevated blood pressure, and deterioration of respiratory and cardiac function. Investigation for inherited metabolic disorders showed elevated levels of ammonia, lactic acid to pyruvic acid ratio, and urine ketone bodies. Exome sequencing detected a homozygous pathogenic variant in <jats:italic>FDX2<\/jats:italic> (ENST00000541276:p.Met4Leu\/c.10A\u2009&gt;\u2009T) and a heterozygous variant of uncertain significance in <jats:italic>MSTO1<\/jats:italic> (ENST00000538143:p.Leu137Pro\/c.410\u2009T\u2009&gt;\u2009C). After Sanger sequencing, the p.Met4Leu pathogenic variant in <jats:italic>FDX2<\/jats:italic> (ENST00000541276:p.Met4Leu\/c.10A\u2009&gt;\u2009T) was identified in a heterozygous state in both her parents and sister. Recently, pathogenic variants in the <jats:italic>FDX2<\/jats:italic> gene have been associated with mitochondrial myopathy, lactic acidosis, optic atrophy, and leukoencephalopathy. Only four reports of <jats:italic>FDX2<\/jats:italic>\u2010related rhabdomyolysis have been described before, but none of the previous patients had hyperammonemia. This is a rare case of severe mitochondrial myopathy in a pediatric patient related to a pathogenic <jats:italic>FDX2<\/jats:italic> variant, suggesting the need for genetic analysis of the <jats:italic>FDX2<\/jats:italic> gene in cases of suspicion of mitochondrial myopathies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63368","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T10:09:12Z","timestamp":1691748552000},"page":"2843-2849","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["\u0391 rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin\u20102 (<scp><i>FDX2<\/i><\/scp>) gene"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8348-8520","authenticated-orcid":false,"given":"Nikolaos","family":"Gkiourtzis","sequence":"first","affiliation":[{"name":"4th Department of Pediatrics, Papageorgiou General Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0085-7384","authenticated-orcid":false,"given":"Despoina","family":"Tramma","sequence":"additional","affiliation":[{"name":"4th Department of Pediatrics, Papageorgiou General Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0236-5981","authenticated-orcid":false,"given":"Kyriaki","family":"Papadopoulou\u2010Legbelou","sequence":"additional","affiliation":[{"name":"4th Department of Pediatrics, Papageorgiou General Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8795-0911","authenticated-orcid":false,"given":"Maria","family":"Moutafi","sequence":"additional","affiliation":[{"name":"4th Department of Pediatrics, Papageorgiou General Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3878-8097","authenticated-orcid":false,"given":"Athanasios","family":"Evangeliou","sequence":"additional","affiliation":[{"name":"4th Department of Pediatrics, Papageorgiou General Hospital Aristotle University of Thessaloniki  Thessaloniki 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