Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

Qiao WeiHao YuPei-Shan WangJuan-Juan XieHai-Lin DongZhi-Ying Wu Hong-Fu Li

Published in: CNS neuroscience & therapeutics (2023)

Our findings revealed that bilateral variants in the COQ4 gene caused HSP predominant phenotype, expanding the phenotypic spectrum of the COQ4-related disorders.

Keyphrases

copy number
genome wide
genome wide identification
dna methylation
heat shock protein
intellectual disability
case report
oxidative stress
autism spectrum disorder