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Article

Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.

Neuromuscular disorders : NMD - 1 Dec 2011

Weidemann Wenke, Reinhardt Anika, Thate Annett, Horstkorte Rüdiger

Abstract excerpt

Hereditary inclusion body myopathy is a neuromuscular disorder characterized by muscle weakness with a late onset and slow progression. It is caused by mutations of the gene encoding UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE). One of the most frequent mutations is an exchange of methionine to threonine at position 712 (M712T). Here we analyzed wildtype (wt) and M712T-mutated (M712T) GNE....

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Identifiers

PMID: 21873062
DOI: 10.1016/j.nmd.2011.06.004

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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