HOMOZYGOUS MUTATION IN HSPB1 CAUSING DISTAL VACUOLAR MYOPATHY AND MOTOR NEUROPATHY

被引：18

作者：

Bugiardini, Enrico ^{[1
]}

Rossor, Alexander M. ^{[1
]}

Lynch, David S. ^{[2
]}

Swash, Michael ^{[4
]}

Pittman, Alan M. ^{[2
]}

Blake, Julian C. ^{[1
,5
]}

Hanna, Michael G. ^{[1
,2
]}

Houlden, Henry ^{[2
]}

Holton, Janice L. ^{[1
,2
,3
]}

Reilly, Mary M. ^{[1
]}

Matthews, Emma ^{[1
]}

机构：

[1] UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England

[2] UCL Inst Neurol, Dept Mol Neurosci, London, England

[3] UCL Inst Neurol, Div Neuropathol, London, England

[4] Royal London Hosp, Dept Neurol, London, England

[5] Norfolk & Norwich Univ Hosp, Dept Clin Neurophysiol, London, England

来源：

NEUROLOGY-GENETICS | 2017年 / 3卷 / 04期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

PHENOTYPE;

D O I：

10.1212/NXG.0000000000000168

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：3

共 6 条

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