Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1.

Nan DuXiaolei WangZhaohui WangHongwei LiuHui LiuHongfang DuanShaozhi ZhaoSantasree BanerjeeXinwen Zhang

Published in: The application of clinical genetics (2024)

associated with CMT4B1 in a Chinese population. Our study also showed the importance of whole-exome sequencing in identifying candidate genes and disease-causing variants in patients with CMT4B1.

Keyphrases

copy number
genome wide
gene expression
dna methylation