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Article

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Journal of human genetics - 1 Jan 2006

Kim Byoung Joon, Ki Chang-Seok, Kim Jong-Won, Sung Duk Hyun, Choi Young-Chul, Kim Seung Hyun

Abstract excerpt

Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is an autosomal recessive neuromuscular disorder characterized by weakness of the anterior compartment of the lower limbs, sparing the quadriceps muscles. Recently, mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene have been identified as the genetic basis of DMRV. To investigate the mutation spectrum of the GNE gene...

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Identifiers

PMID: 16372135
DOI: 10.1007/s10038-005-0338-5

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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