{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T23:47:10Z","timestamp":1768693630741,"version":"3.49.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,7,30]],"date-time":"2020-07-30T00:00:00Z","timestamp":1596067200000},"content-version":"am","delay-in-days":395,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100006451","name":"Hospices Civils de Lyon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006451","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":[[2019,7]]},"DOI":"10.1016\/j.nmd.2019.05.004","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T13:56:58Z","timestamp":1557410218000},"page":"497-502","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene"],"prefix":"10.1016","volume":"29","author":[{"given":"J.","family":"Svahn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Vial","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Streichenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Romero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0088-4956","authenticated-orcid":false,"given":"C.","family":"Bouchet-S\u00e9raphin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bruneel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Dupr\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Seta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0912-5080","authenticated-orcid":false,"given":"R.","family":"Menassa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Michel-Calemard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2019.05.004_bib0001","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2009.06.006","article-title":"Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies","volume":"85","author":"Lefeber","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2019.05.004_bib0002","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1097\/WCO.0b013e32834a95e3","article-title":"Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies","volume":"24","author":"Muntoni","year":"2011","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nmd.2019.05.004_bib0003","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.nmd.2019.05.004_bib0004","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3233\/JND-140047","article-title":"Dystroglycanopathies: about numerous genes involved in glycosylation of one single glycoprotein","volume":"2","author":"Bouchet-S\u00e9raphin","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2019.05.004_bib0005","doi-asserted-by":"crossref","first-page":"2475","DOI":"10.1093\/emboj\/19.11.2475","article-title":"Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3","volume":"19","author":"Maeda","year":"2000","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2019.05.004_bib0006","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1074\/jbc.M511311200","article-title":"DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3","volume":"281","author":"Ashida","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2019.05.004_bib0007","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/ana.23632","article-title":"DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy","volume":"72","author":"Barone","year":"2012","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2019.05.004_bib0008","series-title":"GeneReviews\u00ae [Internet]","article-title":"Congenital muscular dystrophy overview. 2001 Jan 22 [Updated 2012 Aug 23]","author":"Sparks","year":"2018"},{"key":"10.1016\/j.nmd.2019.05.004_bib0009","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.nmd.2017.07.006","article-title":"A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy","volume":"27","author":"Van den Bergh","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.05.004_bib0010","article-title":"Congenital disorders of glycosylation (CDG): quo vadis?","author":"P\u00e9anne","year":"2017","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.nmd.2019.05.004_bib0011","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1136\/jmedgenet-2017-104903","article-title":"Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature","volume":"54","author":"Schiff","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2019.05.004_bib0012","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ymgme.2013.06.016","article-title":"Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy","volume":"110","author":"Yang","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2019.05.004_bib0013","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1172\/JCI8691","article-title":"Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie","volume":"105","author":"Imbach","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2019.05.004_bib0014","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1172\/JCI7302","article-title":"Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)","volume":"105","author":"Kim","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2019.05.004_bib0015","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1023\/B:BOLI.0000042984.42433.d8","article-title":"Congenital disorder of glycosylation (CDG) type Ie. A new patient","volume":"27","author":"Garc\u00eda-Silva","year":"2004","journal-title":"J Inherit Metab Dis."},{"key":"10.1016\/j.nmd.2019.05.004_bib0016","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1203\/01.pdr.0000219430.52532.8e","article-title":"A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings","volume":"59","author":"Dancourt","year":"2006","journal-title":"Pediatr Res"},{"key":"10.1016\/j.nmd.2019.05.004_bib0017","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002427","article-title":"Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation","volume":"7","author":"Lefeber","year":"2011","journal-title":"PLoS Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618302293?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618302293?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:03Z","timestamp":1760774883000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896618302293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["S0960896618302293"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.05.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.05.004","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"}]}}