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Article

Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.

Neurology - 11 May 2004

Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H

Abstract excerpt

Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy. In addition, a splice-variant characteristic of the skeletal muscle was found, whereas the...

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Source

Identifiers

PMID: 15136692
DOI: 10.1212/01.wnl.0000123115.23652.6c

Genes

GNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.Semantic proximity Read ↗

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.Semantic proximity Read ↗

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Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.Semantic proximity Read ↗

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