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

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

Abstract 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-argini...

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Bibliographic Details
Main Authors: Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Neurology
Subjects:
RARS2
Mitochondrial disease
Dysmorphic features
Lennox-Gastaut Syndrome
Untargeted metabolomics analysis
Online Access:https://doi.org/10.1186/s12883-024-03571-w

Internet

https://doi.org/10.1186/s12883-024-03571-w

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