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|Title:||Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand|
Yukiko K. Hayashi
Bangkok International Hospital
National Institute of Neuroscience, Kodaira
|Keywords:||Biochemistry, Genetics and Molecular Biology;Medicine;Neuroscience|
|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.|
|Appears in Collections:||Scopus 2006-2010|
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