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Article

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.

Journal of inherited metabolic disease - 1 Mar 2022

van Esveld Selma L, Rodenburg Richard J, Al-Murshedi Fathiya, Al-Ajmi Eiman, Al-Zuhaibi Sana, Huynen Martijn A, Spelbrink Johannes N

Abstract excerpt

SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulting in a C-terminal truncation of the SUPV3L1 protein. They presented with a characteristic phenotype of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35023579
DOI: 10.1002/jimd.12476
PMCID: PMC9303385

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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