Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 is a synaptic vesicle protein that functions as a calcium sensor for neurotransmission but has not been previously associated with human disease. Via whole-exome sequencing, we identified heterozygous missense mutations in the C2B calcium-binding domain of the gene encoding Synaptota...

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Bibliographic Details
Main Authors: Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzales, Michael, Sanchez-Mejias, Avencia, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boczonadi, Veronika, Lochmüller, Hanns, Griffin, Helen, Chinnery, Patrick F., Lloyd, Thomas E., Zuchner, Stephan, Guan, Zhuo, Littleton, J. Troy
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:en_US
Published: Elsevier B.V. 2017
Online Access:http://hdl.handle.net/1721.1/106814
https://orcid.org/0000-0001-5576-2887

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