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Article

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

Journal of human genetics - 1 Jan 2002

Kayashima Tomohiko, Matsuo Hidenori, Satoh Akira, Ohta Tohru, Yoshiura Koh-ichiro, Matsumoto Naomichi, Nakane Yoshibumi, Niikawa Norio, Kishino Tatsuya

Abstract excerpt

This is the first report on mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) in Nonaka myopathy or distal myopathy with rimmed vacuoles (OMIM 605820), an autosomal recessive neuromuscular disorder. Sequence and haplotype analyses of GNE in two siblings wi...

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Source

Identifiers

PMID: 11916006
DOI: 10.1007/s100380200004

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11916006-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).PMID 11916006Read ↗

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

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Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.Semantic proximity Read ↗

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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 ↗

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.Semantic proximity Read ↗

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

A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteinsSemantic proximity Read ↗

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