Teerin LiewluckTheeraphong Pho-IamChanin LimwongseWanna ThongnoppakhunKanokwan BoonyapisitNatte RaksadawanKumiko MurayamaYukiko K. HayashiIchizo NishinoTumtip SangruchiMahidol UniversityBangkok International HospitalNational Institute of Neuroscience, Kodaira2018-08-202018-08-202006-12-01Muscle and Nerve. Vol.34, No.6 (2006), 775-778109745980148639X2-s2.0-33845309442https://repository.li.mahidol.ac.th/handle/123456789/22943Distal 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineNeuroscienceArticleSCOPUS10.1002/mus.20583