Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1).

Source: BMC Neurology - December 16, 2019 Category: Neurology Authors: Youlong Liang, Jingli Liu, Daobin Cheng, Yu Wu, Liuhong Mo and Wen Huang Tags: Case report Source Type: research