Bi-allelic loss of function mutations in SYT2 cause a congenital onset severe presynaptic myasthenic syndrome

被引：0

作者：

Donkervoort, S. ^{[1
]}

Mohassel, P. ^{[1
]}

Laugwitz, L. ^{[2
]}

Kamsteeg, E. ^{[3
]}

Chao, K. ^{[4
]}

Verschuuren-Bemelmans, C. ^{[5
]}

Horber, V. ^{[6
]}

Fock, J. ^{[5
]}

Voermans, N. ^{[3
]}

Hu, Y. ^{[1
]}

Snyder, M. ^{[7
]}

Iannaccone, S. ^{[8
]}

Lochmueller, H. ^{[9
]}

Haack, T. ^{[2
]}

Foley, A. ^{[1
]}

Horvath, R. ^{[10
]}

Bonnemann, C. ^{[1
]}

机构：

[1] NIH, Bldg 10, Bethesda, MD 20892 USA

[2] Inst Med Genet, Tubingen, Germany

[3] Radboud Univ Nijmegen, Nijmegen, Netherlands

[4] Broad Inst MIT, Boston, MA USA

[5] Univ Groningen, Groningen, Netherlands

[6] Univ Childrens Hosp, Tubingen, Germany

[7] Childrens Hlth, Dallas, TX USA

[8] UT Southwestern Med Ctr, Dallas, TX USA

[9] Univ Freiburg, Freiburg, Germany

[10] Univ Cambridge, Cambridge, England

来源：

NEUROMUSCULAR DISORDERS | 2019年 / 29卷

关键词：

D O I：

10.1016/j.nmd.2019.06.542

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P.380

引用

页码：S192 / S192

页数：1

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