{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T23:06:21Z","timestamp":1769382381710,"version":"3.49.0"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T00:00:00Z","timestamp":1769299200000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,24]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Polyglucosan body myopathy is a type of glycogen storage disease characterized by abnormal glycogen structure formation. Progressive heart failure is the primary cause of mortality in affected patients<\/jats:p>\n <\/jats:sec>\n \n Case Summary<\/jats:title>\n Here, we present a rare case of an Azeri teenage boy with advanced, decompensated heart failure associated with a novel sporadic variant mutation in the RBCK1 gene, displaying a polyglucosan body myopathy phenotype. Following multidisciplinary consensus, the patient underwent successful heart transplantation, resulting in discharge two weeks post-transplantation and excellent health at a one-year follow-up<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n Heart transplantation represents the ultimate treatment option for patients with advanced heart failure and increased mortality risk. It remains a viable and beneficial strategy, even for those with cardiomyopathy secondary to multi-organ diseases.<\/jats:p>\n <\/jats:sec>","DOI":"10.1093\/omcr\/omaf285","type":"journal-article","created":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T12:32:40Z","timestamp":1765197160000},"source":"Crossref","is-referenced-by-count":0,"title":["Successful heart transplantation in a patient with glycogen storage disease"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7498-301X","authenticated-orcid":false,"given":"Hannaneh","family":"Yousefi-Koma","sequence":"first","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babak","family":"Sharif-Kashani","sequence":"additional","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zargham-Hossein","family":"Ahmadi","sequence":"additional","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammadreza Taban","family":"Sadeghi","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Center, Tabriz University of Medical Sciences , Golgasht St., Tabriz 5165665931 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Jahangirifard","sequence":"additional","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Saliminejad","sequence":"additional","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shadi","family":"Shafaghi","sequence":"additional","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farah","family":"Naghashzadeh","sequence":"additional","affiliation":[{"name":"Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,1,25]]},"reference":[{"key":"2026012509584391500_ref1","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1007\/s00415-017-8710-x","article-title":"Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum","volume":"265","author":"Krenn","year":"2018","journal-title":"J Neurol"},{"key":"2026012509584391500_ref2","doi-asserted-by":"publisher","first-page":"e2432","DOI":"10.1002\/mgg3.2432","article-title":"A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review","volume":"12","author":"Sun","year":"2024","journal-title":"Mol Genet Genomic Med"},{"key":"2026012509584391500_ref3","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.1002\/ehf2.14702","article-title":"A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness","volume":"11","author":"MozafaryBazargany","year":"2024","journal-title":"ESC Heart Fail"},{"key":"2026012509584391500_ref4","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1093\/brain\/103.2.315","article-title":"A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as lafora\u2019s disease and normal ageing","volume":"103","author":"Robitaille","year":"1980","journal-title":"Brain."},{"key":"2026012509584391500_ref5","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.mam.2015.08.006","article-title":"Polyglucosan storage myopathies","volume":"46","author":"Hedberg-Oldfors","year":"2015","journal-title":"Mol Asp Med"},{"key":"2026012509584391500_ref6","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/s12891-020-03884-0","article-title":"Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China","volume":"22","author":"Chen","year":"2021","journal-title":"BMC Musculoskelet Disord"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2026\/1\/omaf285\/66569216\/omaf285.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2026\/1\/omaf285\/66569216\/omaf285.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T14:58:48Z","timestamp":1769353128000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omaf285\/8440722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,24]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omaf285","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,1]]},"published":{"date-parts":[[2026,1]]},"article-number":"omaf285"}}