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Article

Novel GNE mutations in two phenotypically distinct HIBM2 patients.

Neuromuscular disorders : NMD - 1 Feb 2011

Weihl Conrad C, Miller Sara E, Zaidman Craig M, Pestronk Alan, Baloh Robert H, Al-Lozi Mohammed

Abstract excerpt

Homozygous mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene cause hereditary inclusion body myopathy type 2 (HIBM2). We describe two unrelated American patients with novel GNE mutations. While one patient followed a typical disease course for HIBM2 with an onset at age 25 and rimmed vacuole pathology on muscle biopsy, the second patient had several features atypical for...

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Source

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Identifiers

PMID: 21131200
DOI: 10.1016/j.nmd.2010.11.002
PMCID: PMC3030125

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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