Publication: Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand
Issued Date
2006-12-01
Resource Type
ISSN
10974598
0148639X
0148639X
Other identifier(s)
2-s2.0-33845309442
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Mahidol University
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SCOPUS
Bibliographic Citation
Muscle and Nerve. Vol.34, No.6 (2006), 775-778
Suggested Citation
Teerin Liewluck, Theeraphong Pho-Iam, Chanin Limwongse, Wanna Thongnoppakhun, Kanokwan Boonyapisit, Natte Raksadawan, Kumiko Murayama, Yukiko K. Hayashi, Ichizo Nishino, Tumtip Sangruchi Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand. Muscle and Nerve. Vol.34, No.6 (2006), 775-778. doi:10.1002/mus.20583 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/22943
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Title
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand
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Abstract
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 GWE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). All patients shared p.V696M in one allele. Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with DMRV. © 2006 Wiley Periodicals, Inc.