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Article

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Human molecular genetics - 15 Oct 2012

Elo Jenni M, Yadavalli Srujana S, Euro Liliya, Isohanni Pirjo, Götz Alexandra, Carroll Christopher J, Valanne Leena, Alkuraya Fowzan S, Uusimaa Johanna, Paetau Anders, Caruso Eric M, Pihko Helena, Ibba Michael, Tyynismaa Henna, Suomalainen Anu

Abstract excerpt

Next-generation sequencing has turned out to be a powerful tool to uncover genetic basis of childhood mitochondrial disorders. We utilized whole-exome analysis and discovered novel compound heterozygous mutations in FARS2 (mitochondrial phenylalanyl transfer RNA synthetase), encoding the mitochondrial phenylalanyl transfer RNA (tRNA) synthetase (mtPheRS) in two patients with fatal epileptic mitochondrial...

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Identifiers

PMID: 22833457
DOI: 10.1093/hmg/dds294

Genes

FARS2

Variants

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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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