Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome

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; Lochmueller, Hanns; Gleeson, Joseph; Houlden, Henry; Haack, Tobias B.; Horvath, Rita; Bonnemann, Carsten G.

Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome

Author:

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; Lochmueller, Hanns; Gleeson, Joseph; Houlden, Henry; Haack, Tobias B.; Horvath, Rita; Bonnemann, Carsten G.

Tübinger Autor(en):

Laugwitz, Lucia
Horber, Veronka
Haack, Tobias

Published in:

American Journal of Medical Genetics Part A (2020), Bd. 182, H. 10, S. 2272-2283

Verlagsangabe:

Wiley

Language:

English

Full text:

http://dx.doi.org/10.1002/ajmg.a.61765

ISSN:

1552-4833