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A case report of resolving an uncertain variant in CHRN1B as pathogenic leading to Congenital Myasthenic Syndrome type 2C.

Author:Gonzalez Castillo, Zurisadai Simon, Kayyal Zadeh, Nedah Thomas, Julian

Session Name:P1: Neuromuscular Disease: Neuromuscular Junction Disorders 1

Topic:Neuromuscular and Clinical Neurophysiology (EMG)

Program Number:P1.001

Author Institution:University of California, Irvine, Long Beach, CA Children’s Hospital of Orange County, Orange, CA Children’s Hospital of Orange County, Orange County, CA Children’s Hospital of Orange County, Long beach, CA

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