autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Left bundle branch block
• Cytochrome C oxidase-negative muscle fibers
• Exercise intolerance
• Multiple mitochondrial DNA deletions
• Myalgia
• Impaired glucose tolerance
• Ventricular bigeminy
• Facial palsy
• Limb muscle weakness

Also known as: PEOA4; autosomal dominant progressive external ophthalmoplegia 4