泰国伴有镶边空泡的远端肌病（DMRV）患者中GNE基因的突变分析。
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
作者信息
Liewluck Teerin, Pho-Iam Theeraphong, Limwongse Chanin, Thongnoppakhun Wanna, Boonyapisit Kanokwan, Raksadawan Natte, Murayama Kumiko, Hayashi Yukiko K, Nishino Ichizo, Sangruchi Tumtip
机构信息
Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Prannok Rd., Siriraj, Bangkok-Noi, Bangkok 10700, Thailand.
出版信息
Muscle Nerve. 2006 Dec;34(6):775-8. doi: 10.1002/mus.20583.
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.
伴有镶边空泡的远端肌病（DMRV）是一种成年早期发病的远端肌病，由UDP-N-乙酰葡糖胺2-表异构酶/N-乙酰甘露糖胺激酶（GNE）基因突变引起。我们在此报告4例患有DMRV的泰国患者，他们携带GNE基因的复合杂合突变，包括3种新突变（p.G89R、p.P511T和p.I656N）和2种已知突变（p.A524V和p.V696M）。所有患者在一个等位基因中均有p.V696M。我们的研究展示了泰国DMRV患者中GNE基因的突变谱。
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