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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, Maha S Zaki, Erik-Jan Kamsteeg, Reza Maroofian, Katherine R Chao, Corien C Verschuuren-Bemelmans, Veronka Horber, Annemarie JM Fock, Riley M McCarty, Minal S Jain, Victoria Biancavilla, Grace McMacken, Matthew Nalls, Nicol C Voermans, Hasnaa M Elbendary, Molly Snyder, Chunyu Cai, Tanya J Lehky, Valentina Stanley, Susan T Iannaccone, A Reghan Foley, Hanns Lochmüller, Joseph Gleeson, Henry Houlden, Tobias B Haack, Rita Horvath, Carsten G Bönnemann
Aug 18, 2020
Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is the major isoform expressed at...