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

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

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)


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-acetylmannos amine kinase (GNE) gene have been identified as the genetic basis of DMRV. To investigate the mutation spectrum of the GNE gene in Korean patients with DMRV, we performed clinical and genetic analysis of nine unrelated patients suspected to have DMRV. Direct sequencing analysis revealed that eight out of nine patients (88.9%) were either homozygous or compound heterozygous for GNE gene mutations, including three known (C13S, R129Q, and V572L) and two novel mutations (M29T and A591P). The allelic frequencies of the V572L and C13S mutations were 68.8% (11/16) and 12.5% (2/16), respectively. These results suggest that screening for GNE gene mutations in patients suspected to have DMRV would be helpful for molecular diagnosis of DMRV in the Korean population.

Original languageEnglish
Pages (from-to)137-140
Number of pages4
JournalJournal of human genetics
Issue number2
Publication statusPublished - 2006 Feb

Bibliographical note

Funding Information:
The Direcci6n General de InvestigacibnC ien-tifica y TCcnica (DGICYT, Spain) is gratefully acknowledgedf or financial support of this work (Project No. PB89-0397).

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles'. Together they form a unique fingerprint.

Cite this