progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
MONDO:0014898Mondo
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014898), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
14 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
- 2 of 2 reported patients
- Depletion of mitochondrial DNA in muscle tissueHPOHP:0009141
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- Mitochondrial myopathyHPOHP:0003737
- 2 of 2 reported patients
- Progressive external ophthalmoplegiaHPOHP:0000590
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 2 reported patients
- PtosisHPO
Show the remaining 2
- Scapular wingingHPOHP:0003691
- 1 of 2 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 1 of 2 reported patients
Where it sits
Other names
5 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- Also called
- autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2PEOB3progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3TK2 autosomal recessive progressive external ophthalmoplegia