An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

被引：0

作者：

Loseth, S. ^{[1
,2
]}

Lillis, S. ^{[3
]}

Torbergsen, T. ^{[1
]}

Jonsrud, C. ^{[1
]}

Lindal, S. ^{[1
]}

Maddison, P. ^{[4
]}

Muntoni, F. ^{[5
]}

Sewry, C. ^{[5
]}

Abbs, S. ^{[3
]}

Straub, V. ^{[6
]}

Jungbluth, H. ^{[7
,8
]}

机构：

[1] Univ Hosp N Norway, Tromso, Norway

[2] Univ Tromso, Dept Neurol & Clin Neurophysiol, Tromso, Norway

[3] DNA Diagnost Lab, GSTS Pathol, London, England

[4] Univ Nottingham Hosp, Nottingham NG7 2UH, England

[5] ICH, Dubowitz Neuromuscular Ctr, London, England

[6] Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England

[7] Kings Coll London, London WC2R 2LS, England

[8] St Thomas Hosp, Evelina Childrens Hosp, London, England

来源：

关键词：

D O I：

10.1016/j.nmd.2011.06.937

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：695 / 695

页数：1