{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:23Z","timestamp":1777803623391,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2011,9,13]],"date-time":"2011-09-13T00:00:00Z","timestamp":1315872000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:p>Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. Here, we report 2 unrelated infants who were born small for their gestational age and who had profound hypotonia at birth and thus needed mechanical ventilation. Both of these patients shared the same frameshift mutation (c.288delA, pGly97GlufsX46) in the GBE1 gene. In addition, both of these patients were found to have 2 different large deletions in the GBE1 gene; exon 7 and exons 2 to 7, respectively, on the other alleles. This case report also highlights the need for a more comprehensive search for large deletion mutations associated with glycogen storage disease type IV, especially if routine GBE1 gene sequencing results are equivocal.<\/jats:p>","DOI":"10.1177\/0883073811415107","type":"journal-article","created":{"date-parts":[[2011,9,14]],"date-time":"2011-09-14T02:07:51Z","timestamp":1315966071000},"page":"204-208","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":14,"title":["Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation"],"prefix":"10.1177","volume":"27","author":[{"given":"Sing-Chung","family":"Li","sequence":"first","affiliation":[{"name":"School of Nutrition and Health Science, Taipei Medical University, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju-Li","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Neonatology, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deeksha S.","family":"Bali","sequence":"additional","affiliation":[{"name":"Pediatrics, Biochemical Genetics Laboratory, Duke University Medical Center, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, Taipei Medical University Hospital, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Ming","family":"Chu","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hung-Chieh","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chien-Yi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wu-Shiun","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Po-Nien","family":"Tsao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan-Tsong","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,9,13]]},"reference":[{"key":"bibr1-0883073811415107","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.06.007"},{"key":"bibr2-0883073811415107","first-page":"100","volume":"7","author":"Tunon T","year":"1988","journal-title":"Clin Neuropathol"},{"key":"bibr3-0883073811415107","first-page":"11","volume":"5","author":"Andersen DH.","year":"1956","journal-title":"Lab Invest"},{"key":"bibr4-0883073811415107","unstructured":"Klein CJ. 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