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

页码：163 / 165

页数：3

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