HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

被引：24
|
作者：
Echaniz-Laguna, Andoni [1 ]
Lornage, Xaviere [2 ]
Lannes, Beatrice [3 ]
Schneider, Raphael [4 ]
Bierry, Guillaume [5 ]
Dondaine, Nicolas [6 ]
Boland, Anne [7 ]
Deleuze, Jean-Francois [7 ]
Bohm, Johann [2 ]
Thompson, Julie [4 ]
Laporte, Jocelyn [2 ]
Biancalana, Valerie [2 ,6 ]
机构：
[1] CHRU, Neuromuscular Dis Ctr CERNEST, Dept Neurol, Strasbourg, France
[2] Univ Strasbourg, Federat Med Translat Strasbourg, CNRS, IGBMC,INSERM,U964,UMR7104, Illkirch Graffenstaden, France
[3] CHRU, Dept Pathol, Strasbourg, France
[4] ICube, UMR7357, Strasbourg, France
[5] CHRU, Dept Radiol, Strasbourg, France
[6] CHRU, Lab Diagnost Genet, Strasbourg, France
[7] CNG, Evry, France
来源：
ACTA NEUROPATHOLOGICA | 2017年 / 134卷 / 01期
关键词：
DISEASE TYPE 2L; MOTOR NEUROPATHY; MUTATIONS;
D O I：
10.1007/s00401-017-1724-8
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：163 / 165
页数：3
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