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

ConclusionsOur results establish the identifiedWARS2 variants as disease ‐causing and highlight the benefit of including human neuronal models, when investigating mutations specifically affecting the nervous system.

Source: Molecular Genetics & Genomic Medicine - March 27, 2019 Category: Genetics & Stem Cells Authors: 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 Tags: ORIGINAL ARTICLE Source Type: research