{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T20:47:01Z","timestamp":1782766021828,"version":"3.54.5"},"reference-count":22,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T00:00:00Z","timestamp":1385337600000},"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":[[2014,2]]},"abstract":"<jats:p>\n                    Muscle-eye-brain disease is a congenital muscular dystrophy characterized by structural brain and eye defects. Here, we describe a 12-year-old boy with partial agenesis of corpus callosum, ventriculomegaly, flattened brain stem, diffuse pachygyria, blindness, profound cognitive deficiencies, and generalized muscle weakness, yet without a clear dystrophic pattern on muscle biopsy. There was no glycosylation of \u03b1-dystroglycan and the genetic screening revealed a novel truncating mutation, c.1545delC (p.Tyr516Thrfs*21), and a previously identified missense mutation, c.1469G&gt;A (p.Cys490Tyr), in the protein\n                    <jats:italic>O<\/jats:italic>\n                    -mannose beta-1,2-\n                    <jats:italic>N<\/jats:italic>\n                    -acetylglucosaminyltransferase 1 (\n                    <jats:italic>POMGNT1<\/jats:italic>\n                    ) gene. These findings broaden the clinical spectrum of muscle-eye-brain disease to include pronounced hypotonia with severe brain and eye malformations, yet with mild histopathologic changes in the muscle specimen, despite the absence of glycosylated \u03b1-dystroglycan.\n                  <\/jats:p>","DOI":"10.1177\/0883073813509119","type":"journal-article","created":{"date-parts":[[2013,11,26]],"date-time":"2013-11-26T20:42:02Z","timestamp":1385498522000},"page":"289-294","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease"],"prefix":"10.1177","volume":"29","author":[{"given":"Madalina","family":"Raducu","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Instituto de Investigaciones Biom\u00e9dicas \u201cAlberto Sols\u201d UAM-CSIC, IdIPAZ, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo P.","family":"Cotarelo","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Instituto de Investigaciones Biom\u00e9dicas \u201cAlberto Sols\u201d UAM-CSIC, IdIPAZ, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogelio","family":"Sim\u00f3n","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Neurolog\u00eda Pedi\u00e1trica, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Camacho","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Neurolog\u00eda Pedi\u00e1trica, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos","family":"Rubio-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Instituto de Investigaciones Biom\u00e9dicas \u201cAlberto Sols\u201d UAM-CSIC, IdIPAZ, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelio","family":"Hern\u00e1ndez-La\u00edn","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Neuropatolog\u00eda, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Cruces","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Instituto de Investigaciones Biom\u00e9dicas \u201cAlberto Sols\u201d UAM-CSIC, IdIPAZ, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,11,25]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(89)80088-9"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000346518.68110.60"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg043"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2007.2"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.40"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02814"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.4.2156"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1180512"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(01)00070-3"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.10.1491"},{"key":"e_1_3_3_12_2","volume-title":"Muscle Biopsy: A Practical Approach","author":"Dubowitz V","year":"2007","unstructured":"Dubowitz V, Sewry CA. Muscle Biopsy: A Practical Approach. 3 rd ed. 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