A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

doi:10.3390/ijms27156978

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Article

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

International journal of molecular sciences - 3 Aug 2026

Aldosary Mazhor, AlQudairy Hanan, Alshalan Nourah, Al-Muhaizea Mohammad A, Alobeid Eman, AlBakheet Albandary, Khouj Ebtissal, Alharbi Aljoharah M, Alenazi Walaa, Omar Hanin R, Alhamdoosh Monther, Alsuwaidan Abdullah, Alhindi Hindi, Alfares Ahmed, Alazami Anas M, Arold Stefan T, Colak Dilek, Taylor Robert W, Kaya Namik

Abstract excerpt

SLC25A4, solute carrier family 25 member 4, gene is a member of the mitochondrial carrier subfamily within the solute carrier protein family. Pathogenic variants in SLC25A4 are associated with a spectrum of mitochondrial disorders that exhibit variable inheritance patterns and clinical manifestations. Specifically, dominantly inherited variants are typically associated with progressive external ophthalmoplegia...

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PMID: 42589632
DOI: 10.3390/ijms27156978
PMCID: PMC13466473

Genes

SLC25A4

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