title: Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
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 GNE 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.
authors.affiliation: Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Prannok Rd., Siriraj, Bangkok-Noi, Bangkok 10700, Thailand. teerinl@gmail.com
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Theeraphong
authors.initials: T
authors.lastname: Pho-Iam
authors.forename: Chanin
authors.initials: C
authors.lastname: Limwongse
authors.forename: Wanna
authors.initials: W
authors.lastname: Thongnoppakhun
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Boonyapisit
authors.forename: Natte
authors.initials: N
authors.lastname: Raksadawan
authors.forename: Kumiko
authors.initials: K
authors.lastname: Murayama
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Tumtip
authors.initials: T
authors.lastname: Sangruchi
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation; D013785:Thailand; D014617:Vacuoles / Q000473:pathology
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase