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Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.

Muscle & nerve - 1 Dec 2006

Liewluck Teerin, Pho-Iam Theeraphong, Limwongse Chanin, Thongnoppakhun Wanna, Boonyapisit Kanokwan, Raksadawan Natte, Murayama Kumiko, Hayashi Yukiko K, Nishino Ichizo, Sangruchi Tumtip

Abstract excerpt

Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). All patients shared...

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Identifiers

PMID: 16810679
DOI: 10.1002/mus.20583

Genes

GNE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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