Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
American journal of medical genetics. Part A - 1 Oct 2020
Donkervoort Sandra, Mohassel Payam, Laugwitz Lucia, Zaki Maha S, Kamsteeg Erik-Jan, Maroofian Reza, Chao Katherine R, Verschuuren-Bemelmans Corien C, Horber Veronka, Fock Annemarie J M, McCarty Riley M, Jain Minal S, Biancavilla Victoria, McMacken Grace, Nalls Matthew, Voermans Nicol C, Elbendary Hasnaa M, Snyder Molly, Cai Chunyu, Lehky Tanya J, Stanley Valentina, Iannaccone Susan T, Foley A Reghan, Lochmüller Hanns, Gleeson Joseph, Houlden Henry, Haack Tobias B, Horvath Rita, Bönnemann Carsten G
Abstract excerpt
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 the neuromuscular junction. Recently, dominant missense variants in SYT2 have been reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or...
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