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Article

Muscle imaging findings in GNE myopathy.

Journal of neurology - 1 Jul 2012

Tasca Giorgio, Ricci Enzo, Monforte Mauro, Laschena Francesco, Ottaviani Pierfrancesco, Rodolico Carmelo, Barca Emanuele, Silvestri Gabriella, Iannaccone Elisabetta, Mirabella Massimiliano, Broccolini Aldobrando

Abstract excerpt

GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon presentations with a non-canonical clinical phenotype, unusual muscle...

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Source

Identifiers

PMID: 22231866
DOI: 10.1007/s00415-011-6357-6

Genes

GNE

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.

Related research

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Muscle imaging findings in GNE myopathy.PMID 22231866Read ↗

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

Two recurrent mutations are associated with GNE myopathy in the North of Britain.Semantic proximity Read ↗

Genetic and Clinical Spectrum of GNE Myopathy in RussiaSemantic proximity Read ↗

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