Article
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.
European journal of neurology - 1 Oct 2017
Ando M, Okamoto Y, Yoshimura A, Yuan J-H, Hiramatsu Y, Higuchi Y, Hashiguchi A, Mitsui J, Ishiura H, Fukumura S, Matsushima M, Ochi N, Tsugawa J, Morishita S, Tsuji S, Takashima H
Abstract excerpt
BACKGROUND AND PURPOSE: The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. We aimed to describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan. METHODS: We analyzed samples from 781 unrelated patients clinically diagnosed with CMT using deoxyribonucleic acid...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.