Publication: Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand
| dc.contributor.author | Teerin Liewluck | en_US |
| dc.contributor.author | Theeraphong Pho-Iam | en_US |
| dc.contributor.author | Chanin Limwongse | en_US |
| dc.contributor.author | Wanna Thongnoppakhun | en_US |
| dc.contributor.author | Kanokwan Boonyapisit | en_US |
| dc.contributor.author | Natte Raksadawan | en_US |
| dc.contributor.author | Kumiko Murayama | en_US |
| dc.contributor.author | Yukiko K. Hayashi | en_US |
| dc.contributor.author | Ichizo Nishino | en_US |
| dc.contributor.author | Tumtip Sangruchi | en_US |
| dc.contributor.other | Mahidol University | en_US |
| dc.contributor.other | Bangkok International Hospital | en_US |
| dc.contributor.other | National Institute of Neuroscience, Kodaira | en_US |
| dc.date.accessioned | 2018-08-20T06:49:09Z | |
| dc.date.available | 2018-08-20T06:49:09Z | |
| dc.date.issued | 2006-12-01 | en_US |
| dc.description.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. | en_US |
| dc.identifier.citation | Muscle and Nerve. Vol.34, No.6 (2006), 775-778 | en_US |
| dc.identifier.doi | 10.1002/mus.20583 | en_US |
| dc.identifier.issn | 10974598 | en_US |
| dc.identifier.issn | 0148639X | en_US |
| dc.identifier.other | 2-s2.0-33845309442 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/123456789/22943 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33845309442&origin=inward | en_US |
| dc.subject | Biochemistry, Genetics and Molecular Biology | en_US |
| dc.subject | Medicine | en_US |
| dc.subject | Neuroscience | en_US |
| dc.title | Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33845309442&origin=inward | en_US |