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Title: Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand
Authors: Teerin Liewluck
Theeraphong Pho-Iam
Chanin Limwongse
Wanna Thongnoppakhun
Kanokwan Boonyapisit
Natte Raksadawan
Kumiko Murayama
Yukiko K. Hayashi
Ichizo Nishino
Tumtip Sangruchi
Mahidol University
Bangkok International Hospital
National Institute of Neuroscience, Kodaira
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine;Neuroscience
Issue Date: 1-Dec-2006
Citation: Muscle and Nerve. Vol.34, No.6 (2006), 775-778
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.
ISSN: 10974598
Appears in Collections:Scopus 2006-2010

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