Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia | Zendy

Duygu Selcen | Zendy; Bisei Ohkawara | Zendy; XinMing Shen | Zendy; Kathleen M. McEvoy | Zendy; Kinji Ohno | Zendy; Andrew G. Engel | Zendy

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Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

Author(s) -

Duygu Selcen,

Bisei Ohkawara,

XinMing Shen,

Kathleen M. McEvoy,

Kinji Ohno,

Andrew G. Engel

Publication year - 2015

Publication title -

jama neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.298

H-Index - 231

eISSN - 2168-6157

pISSN - 2168-6149

DOI - 10.1001/jamaneurol.2015.0853

Subject(s) - agrin , congenital myasthenic syndrome , neuromuscular transmission , neuromuscular junction , exome sequencing , biology , acetylcholine receptor , mutation , motor endplate , neuroscience , microbiology and biotechnology , genetics , medicine , endocrinology , receptor , gene

Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy.

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