Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Neuromuscular disorders : NMD - 1 Dec 2003

Krause Sabine, Schlotter-Weigel Beate, Walter Maggie C, Najmabadi Hossein, Wiendl Heinz, Müller-Höcker Josef, Müller-Felber Wolfgang, Pongratz Dieter, Lochmüller Hanns

Abstract excerpt

An adult-onset hereditary inclusion body myopathy with sparing of the quadriceps muscle was originally described in Iranian Jews and assigned to a locus on chromosome 9p12-p13. Recently, mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene were reported to cause hereditary inclusion body myopathy and one type of distal myopathy in a world-wide distribution. Importantly, the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carbohydrate Epimerases
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

Share to Muscle Fibers, Skeletal

Share to Muscle, Skeletal

Share to Myositis, Inclusion Body

Share to Valine

Source

Identifiers

PMID: 14678807
DOI: 10.1016/s0960-8966(03)00140-8

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.PMID 14678807Read ↗

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.Semantic proximity Read ↗

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

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.Semantic proximity Read ↗

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.Semantic proximity Read ↗

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.Semantic proximity Read ↗

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

Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.Semantic proximity Read ↗

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

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).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 ↗

Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.