{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T23:55:16Z","timestamp":1793922916648,"version":"4.8.0"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T00:00:00Z","timestamp":1588204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.ymgmr.2020.100597","type":"journal-article","created":{"date-parts":[[2020,5,24]],"date-time":"2020-05-24T17:34:03Z","timestamp":1590341643000},"page":"100597","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy"],"prefix":"10.1016","volume":"24","author":[{"given":"Claire","family":"Lefeuvre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Schaeffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert-Yves","family":"Carlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxime","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Chapon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Biancalana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Nicolas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.ymgmr.2020.100597_bb0005","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/ana.24284","article-title":"A new muscle glycogen storage disease associated with glycogenin-1 deficiency","volume":"76","author":"Malfatti","year":"2014","journal-title":"Ann. Neurol."},{"issue":"6","key":"10.1016\/j.ymgmr.2020.100597_bb0010","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000208","article-title":"Clinical heterogeneity and phenotype\/genotype findings in 5 families with GYG1 deficiency","volume":"3","author":"Ben Yaou","year":"2017","journal-title":"Neurol. Genet."},{"issue":"5","key":"10.1016\/j.ymgmr.2020.100597_bb0015","doi-asserted-by":"crossref","first-page":"E122","DOI":"10.1002\/mus.26030","article-title":"Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy: noteworthy cases","volume":"57","author":"Stojkovic","year":"2018","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.ymgmr.2020.100597_bb0020","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1111\/ane.12865","article-title":"Polyglucosan myopathy and functional characterization of a novel GYG1 mutation","volume":"137","author":"Hedberg-Oldfors","year":"2018","journal-title":"Acta Neurol. Scand."},{"issue":"1","key":"10.1016\/j.ymgmr.2020.100597_bb0025","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.nmd.2015.10.012","article-title":"Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1","volume":"26","author":"Akman","year":"2016","journal-title":"Neuromuscul. Disord. NMD"},{"issue":"4","key":"10.1016\/j.ymgmr.2020.100597_bb0030","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.nmd.2018.01.002","article-title":"GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)","volume":"28","author":"Desikan","year":"2018","journal-title":"Neuromuscul. Disord. NMD"},{"issue":"1","key":"10.1016\/j.ymgmr.2020.100597_bb0035","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10545-016-9978-1","article-title":"Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature","volume":"40","author":"Hedberg-Oldfors","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"11","key":"10.1016\/j.ymgmr.2020.100597_bb0040","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.nmd.2011.06.748","article-title":"Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns","volume":"21","author":"Carlier","year":"2011","journal-title":"Neuromuscul. Disord."},{"issue":"10","key":"10.1016\/j.ymgmr.2020.100597_bb0045","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.nmd.2015.07.007","article-title":"Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation","volume":"25","author":"Luo","year":"2015","journal-title":"Neuromuscul. Disord. NMD"},{"issue":"5","key":"10.1016\/j.ymgmr.2020.100597_bb0050","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1097\/WCO.0000000000000484","article-title":"Update on new muscle glycogenosis","volume":"30","author":"Lafor\u00eat","year":"2017","journal-title":"Curr. Opin. Neurol."},{"issue":"12","key":"10.1016\/j.ymgmr.2020.100597_bb0055","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/j.nmd.2019.10.002","article-title":"Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency","volume":"29","author":"Hedberg-Oldfors","year":"2019","journal-title":"Neuromuscul. Disord."},{"issue":"13","key":"10.1016\/j.ymgmr.2020.100597_bb0060","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1056\/NEJMoa0900661","article-title":"Glycogenin-1 deficiency and inactivated priming of glycogen synthesis","volume":"362","author":"Moslemi","year":"2010","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.ymgmr.2020.100597_bb0065","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000021","article-title":"GYG1 gene mutations in a family with polyglucosan body myopathy","volume":"1","author":"Fanin","year":"2015","journal-title":"Neurol. Genet."},{"issue":"10","key":"10.1016\/j.ymgmr.2020.100597_bb0070","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1007\/s00415-016-8268-z","article-title":"Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods","volume":"263","author":"Tasca","year":"2016","journal-title":"J. Neurol."},{"issue":"8","key":"10.1016\/j.ymgmr.2020.100597_bb0075","doi-asserted-by":"crossref","first-page":"2690","DOI":"10.1210\/jc.2017-00399","article-title":"Glycogen synthesis in glycogenin 1-deficient patients: a role for glycogenin 2 in muscle","volume":"102","author":"Krag","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920300434?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920300434?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:51:47Z","timestamp":1762001507000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426920300434"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":15,"alternative-id":["S2214426920300434"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100597","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100597","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100597"}}