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Article

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

Biochemical and biophysical research communications - 4 Mar 2005

Salama Ilan, Hinderlich Stephan, Shlomai Zipora, Eisenberg Iris, Krause Sabine, Yarema Kevin, Argov Zohar, Lochmuller Hanns, Reutter Werner, Dabby Ron, Sadeh Menachem, Ben-Bassat Hannah, Mitrani-Rosenbaum Stella

Abstract excerpt

Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult-onset, slowly progressive distal and proximal muscle weakness, which is caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15670773
DOI: 10.1016/j.bbrc.2004.12.157

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15670773-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.PMID 15670773Read ↗

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