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Article

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

European journal of human genetics : EJHG - 1 May 2014

Hedberg Carola, Oldfors Anders, Darin Niklas

Abstract excerpt

Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of α-dystroglycan are associated with these dystroglycanopathies. We describe a...

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Identifiers

PMID: 24084573
DOI: 10.1038/ejhg.2013.223
PMCID: PMC3992579

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B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.PMID 24084573Read ↗

Expanding the Phenotype of B3GALNT2-Related Disorders.Semantic proximity Read ↗

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.Semantic proximity Read ↗

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.Semantic proximity Read ↗

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.Semantic proximity Read ↗

Congenital disorders of glycosylation with emphasis on cerebellar involvement.Semantic proximity Read ↗

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