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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Main Authors: Herrmann, David N (Author), Horvath, Rita (Author), Sowden, Janet E (Author), Gonzales, Michael (Author), Sanchez-Mejias, Avencia (Author), Whittaker, Roger G (Author), Almodovar, Jorge L (Author), Lane, Maria (Author), Bansagi, Boglarka (Author), Pyle, Angela (Author), Boczonadi, Veronika (Author), Lochmüller, Hanns (Author), Griffin, Helen (Author), Chinnery, Patrick F (Author), Lloyd, Thomas E (Author), Zuchner, Stephan (Author), Guan, Zhuo (Contributor), Littleton, J. Troy (Contributor)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor), Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences (Contributor), Picower Institute for Learning and Memory (Contributor)
Format: Article
Language:English
Published: Elsevier B.V., 2017-01-31T18:46:51Z.
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