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dc.contributor.authorRaducu, Madalina-
dc.contributor.authorCotarelo, R. P.-
dc.contributor.authorSimón, Rogelio-
dc.contributor.authorCamacho, Ana-
dc.contributor.authorRubio, Marcos-
dc.contributor.authorHernández-Laín, Aurelio-
dc.contributor.authorCruces, Jesús-
dc.date.accessioned2015-11-03T13:08:57Z-
dc.date.available2015-11-03T13:08:57Z-
dc.date.issued2014-
dc.identifierdoi: 10.1177/0883073813509119-
dc.identifierissn: 0883-0738-
dc.identifiere-issn: 1708-8283-
dc.identifier.citationJournal of Child Neurology 29(2): 289-294 (2014)-
dc.identifier.urihttp://hdl.handle.net/10261/124385-
dc.description.abstractMuscle-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 α-dystroglycan and the genetic screening revealed a novel truncating mutation, c.1545delC (p.Tyr516Thrfs*21), and a previously identified missense mutation, c.1469G>A (p.Cys490Tyr), in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) 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 α-dystroglycan.-
dc.publisherSage Publications-
dc.rightsopenAccess-
dc.titleClinical features and molecular characterization of a patient with muscle-eye-brain disease: A novel mutation in the POMGNT1 gene-
dc.typeArtículo-
dc.identifier.doi10.1177/0883073813509119-
dc.relation.publisherversionhttps://doi.org/10.1177/0883073813509119-
dc.date.updated2015-11-03T13:08:57Z-
dc.description.versionPeer Reviewed-
dc.language.rfc3066eng-
dc.relation.csic-
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