Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

by Camilla Maffezzini, Isabelle Laine, Cristina Dallabona, Paula Clemente, Javier Calvo‐Garrido, Rolf Wibom, Karin Naess, Michela Barbaro, Anna Falk, Claudia Donnini, Christoph Freyer, Anna Wredenberg, Anna Wedell
Published 2019-06-01

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.

by Aleksandra Pajak, Isabelle Laine, Paula Clemente, Najla El-Fissi, Florian A Schober, Camilla Maffezzini, Javier Calvo-Garrido, Rolf Wibom, Roberta Filograna, Ashish Dhir, Anna Wedell, Christoph Freyer, Anna Wredenberg
Published 2019-07-01