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

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

Abstract Background Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mito...

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Main 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
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
aminoacylation
mitochondria
mitochondrial tryptophanyl‐tRNA synthetase
WARS2
Online Access:https://doi.org/10.1002/mgg3.654

Internet

https://doi.org/10.1002/mgg3.654

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