Article
An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review.
Gene - 20 Oct 2023
Zhang Yuanzhu, Pang Daxin, Wang Ziru, Ma Lerong, Chen Yiwu, Yang Lin, Xiao Wenyu, Yuan Hongming, Chang Fei, Ouyang Hongsheng
Abstract excerpt
Dominant genetic variants in the mitofusin 2 (MFN2) gene lead to Charcot-Marie-Tooth type 2A (CMT2A), a neurodegenerative disease caused by genetic defects that directly damage axons. In this study, we reported a proband with a pathogenic variant in the GTPase domain of MFN2, c.494A > G (p.His165Arg). To date, at least 184 distinct MFN2 variants identified in 944 independent probands have been reported in 131...
Topics
- Humans
- Mutation
- Neurodegenerative Diseases
- Charcot-Marie-Tooth Disease
- GTP Phosphohydrolases
- Genetic Association Studies
- Mitochondrial Proteins