Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.

Hong RenYan LinYing LiXiufang ZhangWei WangXuebi XuKunqian JiYuying ZhaoChuanzhu Yan

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)

This research provided more comprehensive data to help gain insight into the pathogenicity of the m.4160 T > C variant and broaden our view on the LHON plus phenotype.

Keyphrases

deep brain stimulation
early onset
oxidative stress
electronic health record
copy number
genome wide
big data
biofilm formation
genome wide identification
escherichia coli
dna methylation
data analysis
cystic fibrosis
candida albicans