Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family

被引：4
|
作者：
Bogdanova-Mihaylova, P. [1 ]
Murphy, R. P. J. [1 ]
Alexander, M. D. [2 ,3 ]
McHugh, J. C. [2 ,3 ]
Foley, A. Reghan [4 ]
Brett, F. [5 ]
Murphy, S. M. [1 ,3 ]
机构：
[1] Adelaide & Meath Hosp Natl Childrens Hosp, Dept Neurol, Dublin 24, Ireland
[2] Adelaide & Meath Hosp Natl Childrens Hosp, Dept Clin Neurophysiol, Dublin, Ireland
[3] Trinity Coll Dublin, Acad Unit Neurol, Dublin, Ireland
[4] NINDS, Neuromus & Neurogenet Disorders Childhood Sect, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
[5] Beaumont Hosp, Dept Histopathol, Dublin, Ireland
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2018年 / 25卷 / 02期
关键词：
congenital myasthenic syndrome; DPAGT1;
D O I：
10.1111/ene.13532
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：E22 / E23
页数：2
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