{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T06:10:43Z","timestamp":1778479843347,"version":"3.51.4"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Huashan Hospital, Fudan University","award":["YN013"],"award-info":[{"award-number":["YN013"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171441"],"award-info":[{"award-number":["82171441"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171398"],"award-info":[{"award-number":["82171398"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Polyglucosan body myopathy type 1 (PGBM1) is a rare glycogen storage disorder characterized by the abnormal accumulation of polyglucosan bodies in various tissues, particularly skeletal muscle. Caused by pathogenic variants in the RBCK1 gene, PGBM1 presents significant diagnostic challenges due to its rarity and potentially cryptic genetic mechanisms. This report describes a 12-year-old boy presenting with progressive lower limb weakness. Muscle biopsy revealed polyglucosan myopathy changes, including PAS-positive, diastase-resistant inclusions predominantly within glycogen-depleted muscle fibers. A definitive molecular diagnosis was achieved through the integration of whole-genome sequencing and RNA sequencing, which uncovered an Alu mediated homozygous intergenic inversion involving exons 1\u20134 of the RBCK1 gene. Based on previously reported cases of RBCK1-related PGBM1 and our patient, we observed a recurrent recombination between the RBCK1 and TRIB3 genes. This suggests that the 20p13 region is a potential structural rearrangement hotspot.<\/jats:p>","DOI":"10.1093\/hmg\/ddag009","type":"journal-article","created":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T12:49:26Z","timestamp":1770382166000},"source":"Crossref","is-referenced-by-count":0,"title":["An\n                    <i>Alu<\/i>\n                    mediated intergenic inversion in\n                    <i>RBCK1<\/i>\n                    causing Polyglucosan body myopathy type 1"],"prefix":"10.1093","volume":"35","author":[{"given":"Bochen","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"Huashan Rare Disease Center, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9526-5498","authenticated-orcid":false,"given":"Kexin","family":"Jiao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"Huashan Rare Disease Center, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaona","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University , 355 Luding Road, Putuo District, Shanghai 200062 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,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingyu","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"Huashan Rare Disease Center, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanfeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University , 355 Luding Road, Putuo District, Shanghai 200062 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chongbo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"Huashan Rare Disease Center, Huashan Hospital, Fudan University , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7141-4185","authenticated-orcid":false,"given":"Carola","family":"Hedberg-Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg , Gothenburg, Bruna str\u00e5ket 16, 413 45 Gothenburg ,","place":["Sweden"]},{"name":"Department of Pathology, Sahlgrenska University Hospital , Gula str\u00e5ket 2 B, 413 45 Gothenburg, Region Vastra Gotaland ,","place":["Sweden"]},{"name":"Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital , Bl\u00e5 str\u00e5ket 7, 413 45 Gothenburg, Region Vastra Gotaland ,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2523-1414","authenticated-orcid":false,"given":"Anders","family":"Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg , Gothenburg, Bruna str\u00e5ket 16, 413 45 Gothenburg ,","place":["Sweden"]},{"name":"Department of Pathology, Sahlgrenska University Hospital , Gula str\u00e5ket 2 B, 413 45 Gothenburg, Region Vastra Gotaland 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