autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.

Signs and symptoms

• Ptosis
• Progressive external ophthalmoplegia
• Facial palsy
• Generalized muscle weakness
• Ragged-red muscle fibers
• Subsarcolemmal accumulations of abnormally shaped mitochondria
• Cytochrome C oxidase-negative muscle fibers
• EMG: myopathic abnormalities
• Exercise intolerance
• Multiple mitochondrial DNA deletions

Also known as: PEOA2; autosomal dominant progressive external ophthalmoplegia 2