Conditions / Genetic
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
info · Genetic
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.
Signs and symptoms
- Progressive external ophthalmoplegia
- Ptosis
- Fatigue
- Dysphagia
- Increased muscle fatiguability
- Myopathy
- Dysarthria
- Depression
- Exercise intolerance
- Multiple mitochondrial DNA deletions
Also known as: PEOA5; autosomal dominant progressive external ophthalmoplegia 5