autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6

A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15.

Signs and symptoms

• Myopathy
• Multiple mitochondrial DNA deletions
• Ptosis
• Ophthalmoplegia
• Limb muscle weakness
• Dysphagia
• Cytochrome C oxidase-negative muscle fibers
• Ragged-red muscle fibers
• Cachexia
• Weakness of facial musculature

Also known as: PEOB6