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Article

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

Rinsho shinkeigaku = Clinical neurology - 1 Nov 2005

Nishino Ichizo, Noguchi Satoru, Murayama Kumiko, Ohkuma Aya, Kasahata Naoki, Malicdan May Christine V, Hayashi Yukiko K, Nonaka Ikuya

Abstract excerpt

Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) are genetically identical autosomal recessive muscle disorders caused by mutations in the GNE gene. This gene encodes a bifunctional protein with UDP-GlcNAc 2-epimerase and ManNAc kinase activities that catalyze the rate limiting step and the succeeding step, respectively, in the sialic acid biosynthetic pathway. V572L...

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Source

Identifiers

PMID: 16447769

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].PMID 16447769Read ↗

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.Semantic proximity Read ↗

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: Novel mutations in the GNE geneSemantic proximity Read ↗

Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.Semantic proximity Read ↗

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.Semantic proximity Read ↗

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.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 ↗

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.Semantic proximity Read ↗

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 ↗

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.Semantic proximity Read ↗

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