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

Masahiro AndoY OkamotoA YoshimuraJ-H YuanY HiramatsuY HiguchiA HashiguchiJ MitsuiH IshiuraS FukumuraMasaaki MatsushimaN OchiJ TsugawaS MorishitaS TsujiH Takashima

Published in: European journal of neurology (2017)

Our study is the largest report of patients harboring MORC2 variants. We revealed a clinical and mutational spectrum of Japanese patients with MORC2 variants. More attention should be paid to cognitive impairment, and the responsible mechanism requires further research for elucidation.

Keyphrases

copy number
cognitive impairment
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression
dna methylation
patient reported outcomes