Recessive congenital myasthenic syndrome caused by a homozygous mutation inSYT2altering a highly conserved C‐terminal amino acid sequence
Author:
Affiliation:
1. Department of Neurology University of California Davis Sacramento California USA
2. Rehabilitation Center Dr. Henrique Santillo Goiânia Brazil
3. Department of Anesthesiology University of California Davis Davis California USA
Funder
Myasthenia Gravis Foundation of America
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61579
Reference17 articles.
1. Crystallographic identification of Ca2+ and Sr2+ coordination sites in synaptotagmin I C2B domain
2. The unfolding landscape of the congenital myasthenic syndromes
3. Three-Dimensional Structure of the Synaptotagmin 1 C2B-Domain
4. Role of the conserved WHXL motif in the C terminus of synaptotagmin in synaptic vesicle docking
5. Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
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