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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzales, Michael, Sanchez-Mejias, Avencia, Guan, Zhuo, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boczonadi, Veronika, Lochmüller, Hanns, Griffin, Helen, Chinnery, Patrick F., Lloyd, Thomas E., Littleton, J. Troy, Zuchner, Stephan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2014
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4157148/
https://ncbi.nlm.nih.gov/pubmed/25192047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.08.007
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