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Advancing the Understanding of VAMP1-related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

D. Natera De Benito,A. Pugliese,K. Polavarapu,V. Guergueltcheva,I. Tournev,A. Todorova,J. Ribeiro,D. M. Fernandez-Mayoralas,C. Ortez,L. Martorell,B. Estevez-Arias,L. Matalonga,S. Laurie,C. Jou, J. Lau,R. Thompson,X. Shen,A. Engel,A. Nascimento,H. Lochmuller,D. Selcen

NEUROMUSCULAR DISORDERS（2024）

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Key words
Neuromuscular junction,Vesicle-associated membrane protein 1 (VAMP1),Synaptobrevin 1 (SYB1),4-Diaminopyridine (3,4-DAP),Congenital myasthenic syndrome
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