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Article

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

Clinical genetics - 1 Dec 2013

Khademian H, Mehravar E, Urtizberea Ja, Sagoo S, Sandoval L, Carbajo R, Darvish B, Valles-Ayoub Y, Darvish D

Abstract excerpt

GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), resulting in diminished enzyme function and reduced sialic acid biosynthesis. A...

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Identifiers

PMID: 23278550
DOI: 10.1111/cge.12086

Genes

GNE

Variants

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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.

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