GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

被引：29

作者：

Yabe, I

Higashi, T

Kikuchi, S

Sasaki, H

Fukazawa, T

Yoshida, K

Tashiro, K

机构：

[1] Hokkaido Univ, Grad Sch Med, Dept Neurol, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Hokuyukai Neurol Hosp, Sapporo, Hokkaido, Japan

[3] Asahikawa Red Cross Hosp, Dept Neurol, Asahikawa, Hokkaido, Japan

来源：

NEUROLOGY | 2003年 / 61卷 / 03期

关键词：

D O I：

10.1212/01.WNL.0000061520.63546.8F

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.

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页码：384 / 386

页数：3

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