-- 1 PMP22 as a causative gene of Charcot-Marie-Tooth disease type 1 and method for diagnosing the disease using the same

摘要

Provided are a PMP22 protein mutant or a PMP22 gene mutant, a composition or a kit for diagnosing Charcot-Marie-Tooth disease type 1 comprising an agent capable of specifically detecting the same, and a method for diagnosing the disease using the same. The diagnosis using the mutants enables precise diagnosis through genetic testing of Charcot-Marie-Tooth disease which is highly hereditary and caused by a single genetic defect, thereby maximizing a therapeutic effect by applying the recently developed therapeutic method in early stages.