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

Authors
 Byoung Joon Kim  ;  Chang-Seok Ki  ;  Jong-Won Kim  ;  Duk Hyun Sung  ;  Young-Chul Choi  ;  Seung Hyun Kim 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.51(2) : 137-140, 2006 
Journal Title
JOURNAL OF HUMAN GENETICS
ISSN
 1434-5161 
Issue Date
2006
MeSH
Base Sequence ; DNA Mutational Analysis ; Distal Myopathies/genetics* ; Gene Frequency ; Genetic Predisposition to Disease* ; Humans ; Korea ; Molecular Sequence Data ; Multienzyme Complexes/genetics* ; Pedigree ; Sequence Analysis, DNA
Keywords
Distal myopathy with rimmed vacuoles ; DMRV ; GNE gene ; Mutation
Abstract
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 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.
Full Text
http://www.nature.com/jhg/journal/v51/n2/full/jhg200621a.html
DOI
10.1007/s10038-005-0338-5
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/110217
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