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Article

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.

Neurology - 20 Jul 2010

Broccolini A, Gidaro T, Tasca G, Morosetti R, Rodolico C, Ricci E, Mirabella M

Abstract excerpt

BACKGROUND: Hereditary inclusion-body myopathy or distal myopathy with rimmed vacuoles (h-IBM/DMRV) is due to mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which codes for an enzyme of the sialic acid biosynthetic pathway. By Western blot (WB) analysi...

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Source

Identifiers

PMID: 20644153
DOI: 10.1212/WNL.0b013e3181e8e8f1

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20644153-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.PMID 20644153Read ↗

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Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.Semantic proximity Read ↗

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

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).Semantic proximity Read ↗

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