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Article

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.

Molecular genetics and metabolism - 1 Jun 2021

Roux Charles-Joris, Barcia Giulia, Schiff Manuel, Sissler Marie, Levy Raphaël, Dangouloff-Ros Volodia, Desguerre Isabelle, Edvardson Shimon, Elpeleg Orli, Rötig Agnès, Munnich Arnold, Boddaert Nathalie

Abstract excerpt

BACKGROUND AND PURPOSE: Mitochondrial aminoacyl-tRNA synthetases-encoded by ARS2 genes-are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their cognate tRNAs, ensuring the accuracy of the mitochondrial translation process. ARS2 gene mutations are associated with a wide range of clinical presentations affecting the CNS. METHODS: Two senior neuroradiologists analysed brain MRI of 25...

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PMID: 33972171
DOI: 10.1016/j.ymgme.2021.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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