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Article

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

American journal of human genetics - 1 Oct 2007

Edvardson Simon, Shaag Avraham, Kolesnikova Olga, Gomori John Moshe, Tarassov Ivan, Einbinder Tom, Saada Ann, Elpeleg Orly

Abstract excerpt

Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe infantile encephalopathy associated with pontocerebellar hypoplasia and multiple mitochondrial respiratory-chain defects. This resulted in the identification of an intronic mutation in RARS2, the gene encoding mitochondrial arginine-transfer RNA (tRNA) synthetase. The mutation was...

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Source

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Identifiers

PMID: 17847012
DOI: 10.1086/521227
PMCID: PMC2227936

Genes

RARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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