{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:45:39Z","timestamp":1791251139921,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,10,7]],"date-time":"2009-10-07T00:00:00Z","timestamp":1254873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.563A&gt;C) and a severe mutation in intron 5 (c.691+2T&gt;C). We propose that the genotype and the quality of medical care may account for the severe but non\u2010lethal phenotype. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21499","type":"journal-article","created":{"date-parts":[[2009,10,7]],"date-time":"2009-10-07T15:17:24Z","timestamp":1254928644000},"page":"269-271","source":"Crossref","is-referenced-by-count":24,"title":["Non\u2010lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations"],"prefix":"10.1002","volume":"41","author":[{"given":"Carla","family":"Fernandez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Halbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 Maues","family":"De Paula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeri\u00e9","family":"Lacroze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Figarella\u2010Branger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Pellissier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10,7]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605815"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294181"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118517"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<187::AID-AJMG20>3.0.CO;2-7"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000073141.61695.B3"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.12.006"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.07.024"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000042980.45692.bb"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000138429.11433.0D"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30945"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31166"},{"key":"e_1_2_4_13_2","first-page":"75","article-title":"Neuromuscular forms of glycogen branching enzyme deficiency","volume":"26","author":"Bruno C","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.07.074"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807309248"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-008-0417-8"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300505"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21499","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21499","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21499","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T15:55:06Z","timestamp":1697471706000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,7]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/mus.21499"],"URL":"https:\/\/doi.org\/10.1002\/mus.21499","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,7]]}}}