{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:15:23Z","timestamp":1791281723189,"version":"4.1.0"},"reference-count":12,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,2,1]],"date-time":"2010-02-01T00:00:00Z","timestamp":1264982400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,2,1]],"date-time":"2010-02-01T00:00:00Z","timestamp":1264982400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2010,2]]},"DOI":"10.1016\/j.nmd.2009.11.006","type":"journal-article","created":{"date-parts":[[2009,12,17]],"date-time":"2009-12-17T09:21:34Z","timestamp":1261041694000},"page":"128-130","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"title":["Rigid spine syndrome revealing late-onset Pompe disease"],"prefix":"10.1016","volume":"20","author":[{"given":"Pascal","family":"Lafor\u00eat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Doppler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenza","family":"Laloui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristl G.","family":"Claeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Ferreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2009.11.006_bib1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1177\/003591577306600304","article-title":"Rigid spine syndrome: a muscle syndrome in search of a name","volume":"66","author":"Dubowitz","year":"1973","journal-title":"Pro R Soc Med"},{"issue":"2","key":"10.1016\/j.nmd.2009.11.006_bib2","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J","article-title":"Clinical and molecular genetic spectrum of autosomal dominant Emery\u2013Dreifuss muscular dystrophy due to mutations of the lamin A\/C gene","volume":"48","author":"Bonne","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2009.11.006_bib3","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/342719","article-title":"Mutations of the Selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies","volume":"71","author":"Ferreiro","year":"2002","journal-title":"Am J Human Genet"},{"key":"10.1016\/j.nmd.2009.11.006_bib4","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.nmd.2008.09.012","article-title":"Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain gene (FHL1)","volume":"18","author":"Shalaby","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2009.11.006_bib5","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1212\/WNL.0b013e3181b2a4b3","article-title":"Consequences of mutations within the C terminus of the FHL1 gene","volume":"73","author":"Schoser","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2009.11.006_bib6","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ana.21553","article-title":"Mutation in BAG3 causes severe dominant childhood muscular dystrophy","volume":"65","author":"Selcen","year":"2009","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2009.11.006_bib7","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1002\/(SICI)1097-4598(199703)20:3<364::AID-MUS16>3.0.CO;2-0","article-title":"The rigid spine syndrome due to acid maltase deficiency","volume":"20","author":"Fadic","year":"1997","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2009.11.006_bib8","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.nmd.2006.02.001","article-title":"Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome","volume":"16","author":"Kostera-Pruszczyk","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2009.11.006_bib9","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.nmd.2007.06.002","article-title":"Late onset Pompe disease: clinical and neruophysiological spectrum of 38 patients including long-term follow-up in 18 patients","volume":"17","author":"M\u00fcller-Felber","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2009.11.006_bib10","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid \u03b1-glucosidase: major clinical benefits in patients with infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2009.11.006_bib11","series-title":"The metabolic and molecular bases of inherited diseases","first-page":"3389","article-title":"Glycogen storage disease type II: acid \u03b1-glucosidase (Acid maltase) deficiency","author":"Hirschhorn","year":"2001"},{"key":"10.1016\/j.nmd.2009.11.006_bib12","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1212\/WNL.55.8.1122","article-title":"Juvenile and adult-onset acid maltase deficiency in France: genotype\u2013phenotype correlation. Clinical, histopathological, biochemical, and molecular studies in 22 patients","volume":"55","author":"Laforet","year":"2000","journal-title":"Neurology"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896609006889?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896609006889?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:57:50Z","timestamp":1760774270000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896609006889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["S0960896609006889"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2009.11.006","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2010,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rigid spine syndrome revealing late-onset Pompe disease","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2009.11.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}