Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
Charles‐Joris Roux, Giulia Barcia, Manuel Schiff, Marie Sissler, R. Lévy, Volodia Dangouloff‐Ros, Isabelle Desguerre, Simon Edvardson, O Elpeleg, Agnès Rötig, Arnold Münnich, Nathalie Boddaert
Topics & Concepts
GenePhenotypeGeneticsMutationBiologyAminoacyl tRNA synthetaseTransfer RNAWhite matterMagnetic resonance imagingMedicineRNARadiologyMitochondrial Function and PathologyRNA and protein synthesis mechanismsGenomics and Rare Diseases