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Article

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

Molecular genetics and metabolism - 1 Nov 2002

Darvish D, Vahedifar P, Huo Y

Abstract excerpt

Recently, mutations in the gene encoding for the bi-functional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK), symbol GNE or GLCNE (MIM: 603824) [EC 5.1.3.14], were associated with IBM2 (MIM: 600737). IBM2 is a recessively inherited vacuolar myopathy with a preval...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12409274
DOI: 10.1016/s1096-7192(02)00141-5

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12409274-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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