progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012415), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late young adult onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Impaired glucose toleranceHPOHP:0040270
- 1 of 1 reported patient
- Left bundle branch blockHPOHP:0011713
- 1 of 1 reported patient
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 1 of 1 reported patient
- MyalgiaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POLG2HGNC:9180
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2017
Where it sits
Other names
3 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- Also called
- POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletionsprogressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4