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Article

Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.

Irish journal of medical science - 1 Aug 2022

Vafaee-Shahi Mohammad, Farhadi Mohammad, Razmara Ehsan, Morovvati Saeid, Ghasemi Saeide, Abedini Seyedeh Sedigheh, Bagher Zohreh, Alizadeh Rafieh, Falah Masoumeh

Abstract excerpt

BACKGROUND: Mutations in NARS2 (MIM: 612803) are associated with combined oxidative phosphorylation deficiency 24 (COXPD24; MIM: 616239) that is a rare mitochondrial and a multisystem autosomal recessive disorder. AIMS: We aimed to detect the underlying genetic factors in two siblings with progressive ataxia, epilepsy, and severe-to-profound hearing impairment. METHODS: After doing medical assessments and...

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PMID: 34374940
DOI: 10.1007/s11845-021-02736-7

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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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