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Article

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

BMC neurology - 4 Mar 2024

Walimbe Ameya S, Machol Keren, Kralik Stephen F, Mizerik Elizabeth A, Gofin Yoel, Bekheirnia Mir Reza, Gijavanekar Charul, Elsea Sarah H, Emrick Lisa T, Scaglia Fernando

Abstract excerpt

BACKGROUND: RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_020320.5). RARS2 catalyzes the transfer of L-arginine to its cognate tRNA during the translation of mitochondrially-encoded proteins. The classical presentation of...

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Identifiers

PMID: 38438854
DOI: 10.1186/s12883-024-03571-w
PMCID: PMC10910770

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