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Article

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

Brain research - 5 Aug 2014

Raphael Alya R, Couthouis Julien, Sakamuri Sarada, Siskind Carly, Vogel Hannes, Day John W, Gitler Aaron D

Abstract excerpt

The alpha-dystroglycanopathies are genetically heterogeneous muscular dystrophies that result from hypoglycosylation of alpha-dystroglycan (α-DG). Alpha-dystroglycan is an essential link between the extracellular matrix and the muscle fiber sarcolemma, and proper glycosylation is critical for its ability to bind to ligands in the extracellular matrix. We sought to identify the genetic basis of...

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Source

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Identifiers

PMID: 24780531
DOI: 10.1016/j.brainres.2014.04.028
PMCID: PMC4108529

Genes

GMPPB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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