autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.

Signs and symptoms

• Skeletal muscle atrophy
• Dysphagia
• Ragged-red muscle fibers
• Progressive external ophthalmoplegia
• Depletion of mitochondrial DNA in muscle tissue
• Ptosis
• Mitochondrial myopathy
• Proximal muscle weakness
• Cytochrome C oxidase-negative muscle fibers
• Elevated circulating creatine kinase activity

Also known as: PEOB3; autosomal recessive progressive external ophthalmoplegia 3