Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
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.
Liewluck
Teerin
T
Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Prannok Rd., Siriraj, Bangkok-Noi, Bangkok 10700, Thailand. teerinl@gmail.com
Pho-Iam
Theeraphong
T
Limwongse
Chanin
C
Thongnoppakhun
Wanna
W
Boonyapisit
Kanokwan
K
Raksadawan
Natte
N
Murayama
Kumiko
K
Hayashi
Yukiko K
YK
Nishino
Ichizo
I
Sangruchi
Tumtip
T
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
D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase