{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:43:58Z","timestamp":1761734638039,"version":"build-2065373602"},"reference-count":13,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.ejmg.2021.104283","type":"journal-article","created":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T12:28:24Z","timestamp":1625488104000},"page":"104283","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X"],"prefix":"10.1016","volume":"64","author":[{"given":"Anam","family":"Nayab","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qamre","family":"Alam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2726-0473","authenticated-orcid":false,"given":"Othman R.","family":"Alzahrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1010-4407","authenticated-orcid":false,"given":"Ranjha","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Sarfaraz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7138-1582","authenticated-orcid":false,"given":"Alrayan Abass","family":"Albaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misbahuddin M.","family":"Rafeeq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziaullah M.","family":"Sain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Waqas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2021.104283_bib1","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ejmg.2021.104283_bib2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.2174\/1566524024605798","article-title":"Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex","volume":"2","author":"Chou","year":"2002","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.ejmg.2021.104283_bib3","doi-asserted-by":"crossref","first-page":"183","DOI":"10.3109\/01913123.2011.601404","article-title":"Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment","volume":"35","author":"Hicks","year":"2011","journal-title":"Ultrastruct. Pathol."},{"key":"10.1016\/j.ejmg.2021.104283_bib4","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1097\/GIM.0b013e318226fbf2","article-title":"Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation","volume":"13","author":"Jones","year":"2011","journal-title":"Genet. Med."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104283_bib5","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1007\/s00401-009-0524-1","article-title":"Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset","volume":"117","author":"Joshi","year":"2009","journal-title":"Acta Neuropathol."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104283_bib6","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1016\/j.nmd.2016.08.002","article-title":"Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M","volume":"26","author":"Koo","year":"2016","journal-title":"Neuromuscul. Disord."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104283_bib7","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/mus.23527","article-title":"Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama","volume":"47","author":"Salameh","year":"2013","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ejmg.2021.104283_bib8","first-page":"53","article-title":"Novel heterozygous mutations in the PGAM2 gene with negative exercise testing","volume":"17","author":"Sidhu","year":"2018","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.ejmg.2021.104283_bib9","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1002\/mus.880181407","article-title":"The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)","volume":"3","author":"Tsujino","year":"1995","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.ejmg.2021.104283_bib10","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1007\/s12041-017-0868-6","article-title":"Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC\/EVC2 and TMC1 genes","volume":"96","author":"Umair","year":"2017","journal-title":"J Gent"},{"issue":"7","key":"10.1016\/j.ejmg.2021.104283_bib11","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.627","article-title":"Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly","volume":"7","author":"Umair","year":"2019","journal-title":"Mol Genet & Genomic Med"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104283_bib12","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/gim.2012.104","article-title":"Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin","volume":"15","author":"Wang","year":"2013","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2021.104283_bib13","doi-asserted-by":"crossref","first-page":"727","DOI":"10.3389\/fgene.2018.00727","article-title":"SGCD homozygous nonsense mutation (p.Arg 97 \u2217) causing limb-girdle muscular dystrophy type 2F (LGMD2F) in a consanguineous family, a case report","volume":"9","author":"Younus","year":"2019","journal-title":"Front. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122100149X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122100149X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:35Z","timestamp":1761709835000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972122100149X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S176972122100149X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104283","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104283","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104283"}}