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Article

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.

Molecular biology reports - 1 May 2020

Felhi Rahma, Charif Majida, Sfaihi Lamia, Mkaouar-Rebai Emna, Desquiret-Dumas Valerie, Kallel Rim, Bris Céline, Goudenège David, Guichet Agnès, Bonneau Dominique, Procaccio Vincent, Reynier Pascal, Amati-Bonneau Patrizia, Hachicha Mongia, Fakhfakh Faiza, Lenaers Guy

Abstract excerpt

Mitochondrial diseases are a clinically heterogeneous group of multisystemic disorders that arise as a result of various mitochondrial dysfunctions. Autosomal recessive aARS deficiencies represent a rapidly growing group of severe rare inherited mitochondrial diseases, involving multiple organs, and currently without curative option. They might be related to defects of mitochondrial aminoacyl t-RNA synthetases...

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PMID: 32319008
DOI: 10.1007/s11033-020-05425-3

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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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