SLC25A4 function has not been fully characterized.

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 is associated with mutations in the SLC25A4 gene on chromosome 4.

Genetic testing for SLC25A4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.

2 publications have been identified in PubMed for progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Bao S (2025). [PMID: 40556660](https://pubmed.ncbi.nlm.nih.gov/40556660/). *Front Cardiovasc Med*. [Review / Meta-Analysis]

• Chen Y (2024). [PMID: 39344620](https://pubmed.ncbi.nlm.nih.gov/39344620/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]