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Article

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

Human mutation - 1 Jan 2003

Eisenberg Iris, Grabov-Nardini Gil, Hochner Hagit, Korner Mira, Sadeh Menachem, Bertorini Tulio, Bushby Kate, Castellan Claudio, Felice Kevin, Mendell Jerry, Merlini Luciano, Shilling Christopher, Wirguin Itshak, Argov Zohar, Mitrani-Rosenbaum Stella

Abstract excerpt

Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE), as the mutated gene in the prototype form of the disease presenting quadriceps sparing, particularly common in Middle Eastern...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12497639
DOI: 10.1002/humu.9100

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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