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Article

Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.

Journal of the neurological sciences - 15 Oct 2012

Park Young-Eun, Kim Hyang-Suk, Choi Eun-Suk, Shin Jin-Hong, Kim Sun-Young, Son Eun-Hui, Lee Chang-Hoon, Kim Dae-Seong

Abstract excerpt

The gene GNE encodes a bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Its mutations are found in distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM). Those disorders are characterized clinically by predominant anterior tibial muscle weakness and atrophy, and pathologically by rimmed vacuoles on muscle biopsy. We analyzed 11 Korean...

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Source

Identifiers

PMID: 22883483
DOI: 10.1016/j.jns.2012.07.061

Genes

GNE

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.PMID 22883483Read ↗

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).Semantic proximity Read ↗

Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.Semantic proximity Read ↗

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE geneSemantic proximity Read ↗

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

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Semantic proximity Read ↗

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 ↗

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.Semantic proximity Read ↗

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.Semantic proximity Read ↗

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].Semantic proximity Read ↗

Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.Semantic proximity Read ↗

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

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.Semantic proximity Read ↗

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