autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.

Signs and symptoms

• Cytochrome C oxidase-negative muscle fibers
• Multiple mitochondrial DNA deletions
• Ragged-red muscle fibers
• Peripheral axonal neuropathy
• Skeletal muscle atrophy
• Dysphagia
• Elevated circulating creatine kinase activity
• Cerebral cortical atrophy
• Progressive external ophthalmoplegia
• Distal muscle weakness

Also known as: PEOB4; adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency; adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; autosomal recessive progressive external ophthalmoplegia 4