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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2014

Cho Anna, Hayashi Yukiko K, Monma Kazunari, Oya Yasushi, Noguchi Satoru, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

BACKGROUND: GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)....

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Source

Identifiers

PMID: 24027297
DOI: 10.1136/jnnp-2013-305587

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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Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).PMID 24027297Read ↗

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Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.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 ↗

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