Novel RYR1 missense mutation causes core rod myopathy

被引：15

作者：

von der Hagen, M. ^{[1
]}

Kress, W. ^{[2
]}

Hahn, G. ^{[3
]}

Brocke, K. S. ^{[1
]}

Mitzscherling, P. ^{[4
]}

Huebner, A. ^{[4
]}

Mueller-Reible, C. ^{[2
]}

Stoltenburg-Didinger, G.

Kaindl, A. M. ^{[5
,6
]}

机构：

[1] Tech Univ Dresden, Dept Pediat Neurol, D-01307 Dresden, Germany

[2] Univ Wurzburg, Inst Human Genet, Wurzburg, Germany

[3] Tech Univ Dresden, Dept Radiol, Dresden, Germany

[4] Tech Univ Dresden, Childrens Hosp, Dresden, Germany

[5] INSERM, U 676 Paris 7, Paris, France

[6] Charite, Dept Pediat Neurol, Berlin, Germany

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2008年 / 15卷 / 04期

关键词：

core rod myopathy; ryanodine receptor;

D O I：

10.1111/j.1468-1331.2008.02094.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：E31 / E32

页数：2

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