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Article

The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2010

Grandis Marina, Gulli Rossella, Cassandrini Denise, Gazzerro Elisabetta, Benedetti Luana, Narciso Eleonora, Nobbio Lucilla, Bruno Claudio, Minetti Carlo, Bellone Emilia, Reni Lizia, Mancardi Giovanni Luigi, Mandich Paola, Schenone Angelo

Abstract excerpt

Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the "common" Middle Eastern mutation...

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Share to Mutation, Missense
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

Share to Myositis, Inclusion Body

Source

Identifiers

PMID: 20300792
DOI: 10.1007/s10072-010-0248-y

Genes

GNE

Variants

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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