Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

Autor: Natera-de Benito, Daniel, Pugliese, Alessia, Polavarapu, Kiran, Guergueltcheva, Velina, Tournev, Ivailo, Todorova, Albena, Afonso Ribeiro, Joana, Fernández-Mayoralas, Daniel M., Ortez, Carlos, Martorell, Loreto, Estévez-Arias, Berta, Matalonga, Leslie, Laurie, Steven, Jou, Cristina, Lau, Jarred, Thompson, Rachel, Shen, Xinming, Engel, Andrew G., Nascimento, Andres, Lochmüller, Hanns, Selcen, Duygu
Zdroj: In Pediatric Neurology August 2024 157:5-13
Databáze: ScienceDirect
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