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Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

Genetic testing and molecular biomarkers - 1 May 2013

No Daniel, Valles-Ayoub Yadira, Carbajo Rosangela, Khokher Zeshan, Sandoval Lucia, Stein Beth, Tarnopolsky Mark Andrew, Mozaffar Tahseen, Darvish Babak, Pietruszka Marvin, Darvish Daniel

Abstract excerpt

Hereditary Inclusion Body Myopathy (HIBM, IBM2, MIM:600737) is an autosomal recessive adult onset progressive muscle wasting disorder. It is associated with the degeneration of distal and proximal muscles, while often sparing the quadriceps. The bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE/MNK), encoded by the GNE gene, catalyzes the first two committed, rate-limiting steps in the biosynthesis of...

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PMID: 23437777
DOI: 10.1089/gtmb.2012.0408

Genes

GNE

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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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