Abstract

Review question / Objective: We aimed to investigate the demographic features, clinical manifestations and treatment strategies of CMS associated with the Agrin/LRP4/MuSK/Dok7/Rapsyn signaling pathway. Condition being studied: As with all other rare disorders, there has been few large cohort study or clinical trials focusing on CMS associated with endplate development and maintenance deficiency. In such case, systematic reviews are required to help guide the clinician’s diagnostic test and therapeutic strategy, so as to avoid misdiagnosis and inappropriate treatment.

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