Article
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.
Journal of neurology - 1 Feb 2011
Sakaguchi Hideya, Yamashita Satoshi, Miura Akiko, Hirahara Tomoo, Kimura En, Maeda Yasushi, Terasaki Tadashi, Hirano Teruyuki, Uchino Makoto
Abstract excerpt
X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common variant of CMT and is caused by mutations in the GJB1 gene encoding connexin 32. Some CMT1X patients with GJB1 missense mutations have shown transient central nervous system (CNS) symptoms with abnormal brain magnetic resonance imaging (MRI). Herein we report the first case with a novel GJB1 frameshift mutation that associates with a transient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.