{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T18:25:45Z","timestamp":1780597545202,"version":"3.54.1"},"reference-count":47,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>\n                    We report a teenage patient with a delayed diagnosis of compound heterozygous\n                    <jats:italic toggle=\"yes\">POLG<\/jats:italic>\n                    pathogenic variants [(\n                    <jats:italic toggle=\"yes\">POLG<\/jats:italic>\n                    c. 1943 C&gt;G, p.P648R) and (\n                    <jats:italic toggle=\"yes\">POLG<\/jats:italic>\n                    c. 679 C&gt;T, p.R227W)] who presented with fatigue and neuropathy, as well as long standing malnutrition and cachexia, erroneously attributed to an eating disorder. She experienced multiple bowel perforations and pathologic examination revealed jejunal diverticula and features of visceral neuromyopathy. In addition to ganglion cell mega-mitochondrial inclusions, there were multiple foci of interrupted muscularis mucosae, an alteration not previously recognized in the intestines of patients with primary mitochondrial disorders. We provide a detailed account of the gastrointestinal pathologic findings in this patient and compare with prior cases of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) phenotypes.\n                  <\/jats:p>","DOI":"10.1177\/10935266251321317","type":"journal-article","created":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T09:30:31Z","timestamp":1740130231000},"page":"288-299","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous\n                    <i>POLG<\/i>\n                    Variants: Case Presentation and Review of the Literature"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0268-3679","authenticated-orcid":false,"given":"Laura S.","family":"Finn","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Goldstein","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly L.","family":"Hedrick","sequence":"additional","affiliation":[{"name":"Division of General, Thoracic and Fetal Surgery, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,2,21]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00018.2022"},{"key":"e_1_3_3_3_2","first-page":"195","volume-title":"Mitochondria. 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