{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:52Z","timestamp":1787894392244,"version":"build-2784847793"},"reference-count":7,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report two siblings harboring a homozygous\n                    <jats:italic>MGME1<\/jats:italic>\n                    variant, NM_052865.4:c.818\u2009T&gt;A; p.(Val273Glu), both presenting with ptosis, myopathy, scoliosis, and gastrointestinal symptoms. The index patient developed progressive, medically refractory dilated cardiomyopathy and underwent successful orthotopic heart transplantation (OHT). Reanalysis of previously negative WES identified the variant in the index case, and segregation by Sanger sequencing confirmed homozygosity in both siblings. Although several clinical findings overlap with previously described\n                    <jats:italic>MGME1<\/jats:italic>\n                    \u2010related disease, the detected variant remains classified as a variant of uncertain significance (VUS); thus, functional evidence is needed to better understand its potential causal relevance. Additionally, this report underscores the importance of periodic genomic data reanalysis and highlights the variable expressivity that may occur even within the same family.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70049","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T06:11:02Z","timestamp":1767939062000},"page":"1128-1133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Homozygous\n                    <scp>\n                      <i>MGME1<\/i>\n                    <\/scp>\n                    Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of\n                    <scp>\n                      <i>MGME1<\/i>\n                    <\/scp>\n                    \u2010Related Mitochondrial Disease"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0843-5370","authenticated-orcid":false,"given":"Nazli Busra","family":"Acikgoz","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-3236","authenticated-orcid":false,"given":"Gizem Urel","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-1388","authenticated-orcid":false,"given":"Yilmaz","family":"Yildiz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2140-5456","authenticated-orcid":false,"given":"Mehmet Bugrahan","family":"Duz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Cambridge USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5488-5324","authenticated-orcid":false,"given":"Nagihan","family":"Sener","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8690-4494","authenticated-orcid":false,"given":"Safak","family":"Alpat","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Division of Pediatric Cardiac Surgery Hacettepe University Faculty of Medicine  Ankara 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Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-5542","authenticated-orcid":false,"given":"Gulen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin Ozlem Simsek","family":"Kiper","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara 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