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Article

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

Journal of child neurology - 1 Feb 2014

Raducu Madalina, Cotarelo Rocío P, Simón Rogelio, Camacho Ana, Rubio-Fernández Marcos, Hernández-Laín Aurelio, Cruces Jesús

Abstract excerpt

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...

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Source

Identifiers

PMID: 24282183
DOI: 10.1177/0883073813509119

Genes

POMGNT1

Variants

Provenance

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Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.PMID 24282183Read ↗

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Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.Semantic proximity Read ↗

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