Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Camilla MaffezziniIsabelle LaineCristina DallabonaPaula ClementeJavier Calvo-GarridoRolf WibomKarin NaessMichela BarbaroAnna FalkClaudia DonniniChristoph FreyerAnna WredenbergAnna WedellPublished in: Molecular genetics & genomic medicine (2019)
Our results establish the identified WARS2 variants as disease-causing and highlight the benefit of including human neuronal models, when investigating mutations specifically affecting the nervous system.