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Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

Genetic testing and molecular biomarkers - 1 Apr 2010

Saechao Chai, Valles-Ayoub Yadira, Esfandiarifard Saghi, Haghighatgoo Arman, No Daniel, Shook Steven, Mendell Jerry R, Rosales-Quintero Xiomara, Felice Kevin J, Morel Chantal F, Pietruska Marvin, Darvish Daniel

Abstract excerpt

Autosomal recessive hereditary inclusion body myopathy (HIBM or IBM2) is a progressive adult onset muscle wasting disorder characterized by sparing of the quadriceps. IBM2 is also known as distal myopathy with rimmed vacuoles or nonaka myopathy. IBM2 is associated with mutations in the UDP-GlcNAc 2-Epimerase/ManNAc Kinase gene (GNE). GNE is the rate-limiting enzyme of N-Acetylneuraminate (Neu5Ac, Sialic acid)...

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Source

Identifiers

PMID: 20059379
DOI: 10.1089/gtmb.2009.0157

Genes

GNE

Variants

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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