Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand |
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| Authors: | Liewluck Teerin Pho-Iam Theeraphong Limwongse Chanin Thongnoppakhun Wanna Boonyapisit Kanokwan Raksadawan Natte Murayama Kumiko Hayashi Yukiko K Nishino Ichizo Sangruchi Tumtip |
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| Institution: | Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Prannok Rd., Siriraj, Bangkok-Noi, Bangkok 10700, Thailand. teerinl@gmail.com |
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| 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. |
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| Keywords: | distal myopathy with rimmed vacuoles DMRV GNE hereditary inclusion‐body myopathy UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase |
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