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Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
Eduardo de Paula Estephan, Antonio Alberto Zambon, Paulo Eurípedes Marchiori, André Macedo Serafim da Silva, Vitor Marques Caldas, Cristiane Araújo Martins Moreno, Umbertina Conti Reed, Rita Horvath, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli
Jan 09, 2019
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS...
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...
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Amina Chaouch, Vito Porcelli, Daniel Cox, Shimon Edvardson, Pasquale Scarcia, Anna De Grassi, Ciro L Pierri, Judith Cossins, Steven H Laval, Helen Griffin, Juliane S Müller, Teresinha Evangelista, Ana Töpf, Angela Abicht, Angela Huebner, Maja von der Hagen, Kate Bushby, Volker Straub, Rita Horvath, Orly Elpeleg, Jacqueline Palace, Jan Senderek, David Beeson, Luigi Palmieri, Hanns Lochmüller
Mar 07, 2019
BACKGROUND AND OBJECTIVE: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction. We performed whole exome sequencing to unravel the...