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Article

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

Autophagy - 1 Jan 2000

Malicdan May Christine V, Noguchi Satoru, Nishino Ichizo

Abstract excerpt

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an autosomal recessive disorder clinically characterized by weakness that initially involves the distal muscles, although other muscles can be affected as well. Pathological hallmarks include the presence of rimmed vacuoles (RVs) and intracellular Congo red-positive depositions in vacuolated or nonvacuolated fibers....

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Source

Identifiers

PMID: 17471014
DOI: 10.4161/auto.4270

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.

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Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.PMID 17471014Read ↗

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

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

Hereditary inclusion-body myopathies.Semantic proximity Read ↗

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

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