Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

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...

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Опубликовано в: :Am J Med Genet A
Главные авторы: 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 JM., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M, Snyder, Molly, Cai, Chunyu, Lehky, Tanya, Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.
Формат: Artigo
Язык:Inglês
Опубликовано: 2020
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7959540/
https://ncbi.nlm.nih.gov/pubmed/32776697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61765
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