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Congenital Myasthenic Syndrome Due to Novel GFPT1 Variant Presenting with Head Drop and Visual Impairment: A Case Report

Author:Torrey, Katharine   Tiongson, Emmanuelle   Logan, Rachel   Dennison, John   Fischer, Andrew   Jain, Nieraj   Schniederjan, Matthew   Maselli, Ricardo   Verma, Sumit   

Session Name:P9: Child Neurology and Developmental Neurology: Neuromuscular Disorders 3  

Topic:Child Neurology and Developmental Neurology  

Program Number:P9.001  

Author Institution:Emory University School of Medicine, Atlanta, GA  Childrens Hospital Los Angeles, Los Angeles, CA  Children's Healthcare of Atlanta, Atlanta, GA  Emory University School of Medicine, Tulsa, OK  University of California, Davis, CA  Emory University School of Medicine, Tucker, GA