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
收藏
页码：E31 / E32
页数：2
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