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Article

SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.

Clinical genetics - 1 Jan 2026

Alatawi Areej, Alshehri Omamah, Alessa Aminah, Al Mutairi Fuad, AlSaleh Norah, Eyaid Wafaa, Alsamri Ali, Faqeih Eissa, Mushiba Aziza, Saleh Mohammed, Alotaibi Maha, Tabarki Brahim, Aljadhai Yaser I, Katsonis Panagiotis, Lichtarge Olivier, Alkuraya Fowzan S, Alfadhel Majid, Almannai Mohammed

Abstract excerpt

SLC25A42 encodes a mitochondrial carrier that is responsible for the import of CoA into mitochondria. Biallelic pathogenic variants in SLC25A42 have been associated with a recently described mitochondrial disorder characterized by encephalomyopathy with variable severity. To date, 24 affected individuals from 16 different families have been reported. Most are of Arab descent who harbor the founder variant in...

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Identifiers

PMID: 40631575
DOI: 10.1111/cge.70021

Genes

SLC25A42

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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