Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNAGln m.4349C>T Variant.

Kunqian JiWei WangYan LinXuebi XuFuchen LiuDongdong WangYuying ZhaoChuanzhu Yan

Published in: Annals of clinical and translational neurology (2021)

This study illustrated the pathogenicity of a novel m.4349C>T mutation and provided a better understanding of the phenotype associated with mutations in mitochondrial tRNAGln gene.

Keyphrases

oxidative stress
early onset
copy number
gene expression
dna methylation
cystic fibrosis
pseudomonas aeruginosa
biofilm formation