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Additional file 1: Table S1. of Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Authors :
Jianying Xi
Yan, Chong
Liu, Wei-Wei
Qiao, Kai
Lin, Jie
Tian, Xia
Wu, Hui
Jiahong Lu
Lee-Jun Wong
Beeson, David
Chongbo Zhao
Publication Year :
2017
Publisher :
figshare, 2017.

Abstract

Variants found in two patients (c.117Câ >â G in CHRND has been seen in ExAC 649 times and was classified in ClinVar as benign variant by Emory Genetics and Prevention Genetics. It should be a common SNP, not mutation no matter the inheritance is AD or AR). Figure S1. MRI of lower limbs in 2 patients showed mild non-selective fatty infiltration without significant proximal and distal muscle atrophy. Figure S2. Sanger sequencing of variants found in two patients and their parents. Figure S3. Sequence alignment of human agrin with the other species. Multiple sequence alignments were performed by uniprot ( http://www.uniprot.org , May 3rd, 2017). Figure S4. Schematic representation of agrin with the positions and functional studies of all reported mutations to date. SS: signal sequence, LE: laminin EGF-like domain, S/T: serine/threonine-rich glycosaminoglycan attachment site, EG: EGF-like domain. See the references in the article. (DOCX 563Â kb)

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....3a7248c544ab36ba1cf7d0d4b575c22a
Full Text :
https://doi.org/10.6084/m9.figshare.5721166.v1