{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T17:34:19Z","timestamp":1784828059338,"version":"3.55.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2012-02014"],"award-info":[{"award-number":["2012-02014"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.nmd.2019.10.002","type":"journal-article","created":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T20:46:13Z","timestamp":1571777173000},"page":"951-960","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency"],"prefix":"10.1016","volume":"29","author":[{"given":"Carola","family":"Hedberg-Oldfors","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willem","family":"De Ridder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ognian","family":"Kalev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"B\u00f6ck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kittichate","family":"Visuttijai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Caravias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9227-2526","authenticated-orcid":false,"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8295-5385","authenticated-orcid":false,"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Oldfors","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2019.10.002_bib0001","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1097\/WCO.0b013e328364dbdc","article-title":"New insights in the field of muscle glycogenoses","volume":"26","author":"Oldfors","year":"2013","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nmd.2019.10.002_bib0002","doi-asserted-by":"crossref","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":"10.1016\/j.nmd.2019.10.002_bib0003","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s10545-014-9785-5","article-title":"Glycogen pathways in disease: new developments in a classical field of medical genetics","volume":"38","author":"Kilimann","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2019.10.002_bib0004","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0005","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0006","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.bbapap.2013.11.002","article-title":"LC-MS\/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences","volume":"1844","author":"Nilsson","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.nmd.2019.10.002_bib0007","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1042\/BJ20111416","article-title":"Glycogen and its metabolism: some new developments and old themes","volume":"441","author":"Roach","year":"2012","journal-title":"Biochem J"},{"key":"10.1016\/j.nmd.2019.10.002_bib0008","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/jmri.20804","article-title":"Muscle MRI in inherited neuromuscular disorders: past, present, and future","volume":"25","author":"Mercuri","year":"2007","journal-title":"J Magn Reson Imaging"},{"key":"10.1016\/j.nmd.2019.10.002_bib0009","series-title":"Muscle biopsy: a practical approach.","author":"Dubowitz","year":"2013"},{"key":"10.1016\/j.nmd.2019.10.002_bib0010","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/ejhg.2017.16","article-title":"A novel recessive ttn founder variant is a common cause of distal myopathy in the Serbian population","volume":"25","author":"Peric","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2019.10.002_bib0011","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0012","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0013","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0014","doi-asserted-by":"crossref","first-page":"e208","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0015","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0016","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"},{"key":"10.1016\/j.nmd.2019.10.002_bib0017","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1002\/ana.23963","article-title":"Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1","volume":"74","author":"Nilsson","year":"2013","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2019.10.002_bib0018","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1056\/NEJMoa066691","article-title":"Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0","volume":"357","author":"Kollberg","year":"2007","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nmd.2019.10.002_bib0019","article-title":"Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan storage","author":"Visuttijai","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.nmd.2019.10.002_bib0020","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.cmet.2017.06.008","article-title":"Lack of glycogenin causes glycogen accumulation and muscle function impairment","volume":"26","author":"Testoni","year":"2017","journal-title":"Cell Metab"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619311587?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619311587?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:54Z","timestamp":1760774934000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896619311587"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["S0960896619311587"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.10.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}