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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Détails bibliographiques
Auteurs principaux: 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
Autres auteurs: Massachusetts Institute of Technology. Department of Biology
Format: Article
Langue:en_US
Publié: Elsevier B.V. 2017
Accès en ligne:http://hdl.handle.net/1721.1/106814
https://orcid.org/0000-0001-5576-2887

Internet

http://hdl.handle.net/1721.1/106814
https://orcid.org/0000-0001-5576-2887

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