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Article

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

Revue neurologique - 1 May 2008

Béhin A, Dubourg O, Laforêt P, Pêcheux C, Bernard R, Lévy N, Eymard B

Abstract excerpt

Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. Among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, often designated as Nonaka myopathy, primarily affect young adults and are characterized by muscle wasting and weakness predominating on the anterior...

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Source

Identifiers

PMID: 18555875
DOI: 10.1016/j.neurol.2008.02.040

Genes

GNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].PMID 18555875Read ↗

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

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

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

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.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 myopathies].Semantic proximity Read ↗

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

GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.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 ↗

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