TWNK function has not been fully characterized.

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 is associated with mutations in the TWNK gene on chromosome 10.

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

Phenotype severity distribution: 2 always present features.

No clinical trials have been registered for progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.

4 publications have been identified in PubMed for progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Clinical Trial Publication (25%).

Recent Publications

• Mayer D (2026). [PMID: 41766080](https://pubmed.ncbi.nlm.nih.gov/41766080/). *J Clin Neuromuscul Dis*. [Case Report / Case Series]

• Yoshida C (2026). [PMID: 42366043](https://pubmed.ncbi.nlm.nih.gov/42366043/). *Intern Med*. [Case Report / Case Series]

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

• Karaa A (2024). [PMID: 39574155](https://pubmed.ncbi.nlm.nih.gov/39574155/). *Orphanet J Rare Dis*. [Clinical Trial Publication]