Congenital myasthenic syndrome in two Egyptian siblings due to a novel low-expressor AChR epsilon subunit mutation

被引：0
|
作者：
de la Banda, M. Gomez Garcia [1 ]
Fahmi, N. [2 ]
Sternberg, D. [3 ]
Blondy, P. [3 ]
Quijano-Roy, S. [1 ]
Malfatti, E. [1 ]
机构：
[1] UVSQ Paris Saclay, AP HP, Garches, France
[2] Ain Shams Univ, Cairo, Egypt
[3] Sorbonne Univ, AP HP, Paris, France
来源：
NEUROMUSCULAR DISORDERS | 2020年 / 30卷
关键词：
D O I：
10.1016/j.nmd.2020.08.042
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P.34
引用
收藏
页码：S57 / S58
页数：2
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