autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31.

Signs and symptoms

• Progressive external ophthalmoplegia
• Global developmental delay
• Limb muscle weakness
• Depression
• Proximal muscle weakness
• Subsarcolemmal accumulations of abnormally shaped mitochondria
• Cytochrome C oxidase-negative muscle fibers
• Exercise intolerance
• Multiple mitochondrial DNA deletions
• Myalgia

Also known as: PEOA3; autosomal dominant progressive external ophthalmoplegia 3