{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T23:09:28Z","timestamp":1778800168632,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T00:00:00Z","timestamp":1757721600000},"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":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Mitochondrial phosphate carrier (PiC) deficiency, caused by pathogenic variants in the\n                    <jats:italic>SLC25A3<\/jats:italic>\n                    gene, is a rare autosomal recessive disorder primarily presenting with early\u2010onset hypertrophic cardiomyopathy (HCMP), muscular hypotonia, and respiratory failure. This report presents a case of a 32\u2010year\u2010old female manifesting with HCMP and myopathy beyond the neonatal period. The patient's neuromotor development was initially normal, but from 1.5\u2009years of age, she exhibited fatigue and muscle weakness, particularly after walking. Muscle biopsy revealed normal muscle fiber size with a predominance of type 1 fibers. The histopathology showed a mild increase in cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) activity, suggesting mitochondrial myopathy. The patient was treated with mitochondrial therapy, along with a fat\u2010rich diet. Despite clinical improvement, lactate levels remained elevated. Genetic analysis identified a homozygous splicing variant in the\n                    <jats:italic>SLC25A3<\/jats:italic>\n                    gene [NM_005888.4:c.158\u20109A&gt;G (IVS2\u20109A&gt;G)], consistent with mitochondrial PiC deficiency. At the age of 32\u2009years, the patient remained stable with HCMP and persistently high lactate levels. This case supports the expansion of the clinical spectrum of mitochondrial PiC deficiency by presenting a patient with a later\u2010onset phenotype compared to previously reported cases.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64259","type":"journal-article","created":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T14:54:51Z","timestamp":1757775291000},"page":"438-445","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7264-038X","authenticated-orcid":false,"given":"Arzu","family":"Selamioglu","sequence":"first","affiliation":[{"name":"Division of Pediatric Metabolic Diseases Ba\u011fc\u0131lar Training and Research Hospital  Istanbul T\u00fcrkiye"},{"name":"Department of Rare Diseases Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazlum Akif","family":"Altun","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly","family":"Bliven","sequence":"additional","affiliation":[{"name":"PreventionGenetics Part of Exact Sciences  Marshfield Wisconsin USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6k\u00e7en","family":"\u00dcnverengil","sequence":"additional","affiliation":[{"name":"Department of Pathology, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilek","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0662-7344","authenticated-orcid":false,"given":"Meryem","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases Istanbul University  Istanbul T\u00fcrkiye"},{"name":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2167-8139","authenticated-orcid":false,"given":"Mehmet Cihan","family":"Balc\u0131","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asuman","family":"Gedikba\u015f\u0131","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatmahan","family":"Atalar","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fclden","family":"G\u00f6k\u00e7ay","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases Istanbul University  Istanbul T\u00fcrkiye"},{"name":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_364"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(96)01294-X"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14508"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63643"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/511788"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.06.005"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02199-3"}],"container-title":["American Journal of Medical Genetics Part 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