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Article

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.

Neuromuscular disorders : NMD - 1 Feb 2005

Broccolini Aldobrando, Gliubizzi Carla, Pavoni Ernesto, Gidaro Teresa, Morosetti Roberta, Sciandra Francesca, Giardina Bruno, Tonali Pietro, Ricci Enzo, Brancaccio Andrea, Mirabella Massimiliano

Abstract excerpt

Mutations of the GNE gene are responsible for autosomal recessive hereditary inclusion-body myopathy (HIBM). In this study we searched for the presence of any significant abnormality of alpha-dystroglycan (alpha-DG), a highly glycosylated component of the dystrophin-glycoprotein complex, in 5 HIBM patients which were previously clinically and genetically characterized. Immunocytochemical and immunoblot analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15694140
DOI: 10.1016/j.nmd.2004.10.001

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.PMID 15694140Read ↗

GNE protein expression and subcellular distribution are unaltered in HIBM.Semantic proximity Read ↗

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.Semantic proximity Read ↗

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.Semantic proximity Read ↗

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Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.Semantic proximity Read ↗

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The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates.Semantic proximity Read ↗

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