Article

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

2019-12-11

Abstract excerpt

<title>Abstract</title> <p>Background 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). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible...

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Literature Corpus work: 524faddb-378b-522a-929e-c90ae7bb9da5
DOI: 10.21203/rs.2.13259/v3

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