Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.

Paul de LaatRichard R RodenburgNel RoeleveldSaskia KoeneJan A SmeitinkMirian Ch Janssen

Published in: Journal of medical genetics (2020)

The mDNA 3243 A>G variant causes a slowly progressive disease, with a yearly increase of NMDAS score of ~0.5 point overall with the clinical phenotype being the only determinant of disease progression.

Keyphrases

mitochondrial dna
copy number
multiple sclerosis
dna methylation
gene expression