期刊
MUSCLE & NERVE
卷 34, 期 6, 页码 775-778出版社
JOHN WILEY & SONS INC
DOI: 10.1002/mus.20583
关键词
distal myopathy with rimmed vacuoles; DMRV; GNE; hereditary; inclusion-body myopathy; UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine; kinase
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.1656N) 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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