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Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan

European Journal of Neurology Aug 09, 2017

Ando M, et al. – Researchers performed this study to describe the clinical and mutational spectrum of patients with Charcot–Marie–Tooth disease (CMT) harboring microrchidia family CW–type zinc finger 2 gene (MORC2) mutations in Japan. They concluded that this study was the largest report of patients harboring MORC2 variants. They demonstrated a clinical and mutational spectrum of Japanese patients with MORC2 variants. More attention had to be paid to cognitive impairment, and the responsible mechanism required additional research for clarification.
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