Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Abstract Background Charcot–Marie–Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe...

Full description

Bibliographic Details
Main Authors: Xiaohui Duan, Xiaoxuan Liu, Guochun Wang, Weihong Gu, Min Xu, Ying Hao, Mingrui Dong, Qing Sun, Shaojie Sun, Yuanyuan Chen, Wei Wang, Jing Li, Yuting Zhang, Zhenhua Cao, Dongsheng Fan, Renbin Wang, Yuwei Da
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Charcot–Marie–Tooth disease
Spinal muscular atrophy
MORC2
Genotype
Phenotype
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s13023-021-01881-7

Similar Items

Similar Items