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Article

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Neurology - 7 Apr 2015

Bharucha-Goebel Diana X, Neil Erin, Donkervoort Sandra, Dastgir Jahannaz, Wiggs Edythe, Winder Thomas L, Moore Steven A, Iannaccone Susan T, Bönnemann Carsten G

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Identifiers

PMID: 25770200
DOI: 10.1212/WNL.0000000000001440
PMCID: PMC4395885

Genes

GMPPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.PMID 25770200Read ↗

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

Expanding the phenotype of GMPPB mutations.Semantic proximity Read ↗

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic HeterogeneitySemantic proximity Read ↗

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.Semantic proximity Read ↗

Intrafamilial diversity of phenotype associated with app duplication.Semantic proximity Read ↗

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

Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.Semantic proximity Read ↗

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D typeSemantic proximity Read ↗

[Genes of alpha-dystroglycanopathies in 2016].Semantic proximity Read ↗

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersSemantic proximity Read ↗

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

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