Distal myopathy with rimmed vacuoles:: Novel mutations in the GNE gene

被引：53

作者：

Tomimitsu, H

Ishikawa, K

Shimizu, J

Ohkoshi, N

Kanazawa, I

Mizusawa, H

机构：

[1] Tokyo Med & Dent Univ, Grad Sch, Dept Neurol & Neurol Sci, Bunkyo Ku, Tokyo 1138519, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan

[3] Univ Tsukuba, Inst Clin Med, Dept Neurol, Tsukuba, Ibaraki 305, Japan

来源：

NEUROLOGY | 2002年 / 59卷 / 03期

关键词：

D O I：

10.1212/WNL.59.3.451

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles. Seven out of nine patients had homozygous V572L mutation, one was a compound heterozygote with C303V and V572L mutations, and the remaining patient bore homozygous A631V mutation.

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页码：451 / 454

页数：4

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