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Article

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Human mutation - 1 Dec 2015

Jensen Braden S, Willer Tobias, Saade Dimah N, Cox Mary O, Mozaffar Tahseen, Scavina Mena, Stefans Vikki A, Winder Thomas L, Campbell Kevin P, Moore Steven A, Mathews Katherine D

Abstract excerpt

Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-ass...

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Source

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Identifiers

PMID: 26310427
DOI: 10.1002/humu.22898
PMCID: PMC4843780

Genes

GMPPB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26310427-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.PMID 26310427Read ↗

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studySemantic proximity Read ↗

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.Semantic proximity Read ↗

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Semantic proximity Read ↗

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Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.Semantic proximity Read ↗

Expanding the phenotype of GMPPB mutations.Semantic proximity Read ↗

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