mitochondrial DNA depletion syndrome 11

A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_mate

A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.

Signs and symptoms

• Cerebellar atrophy
• Multiple mitochondrial DNA deletions
• Ragged-red muscle fibers
• Progressive external ophthalmoplegia
• Decreased activity of mitochondrial complex I
• Generalized amyotrophy
• Kyphosis
• Facial palsy
• Hypergonadotropic hypogonadism
• Recurrent infections

Also known as: progressive external ophthalmoplegia-myopathy-emaciation syndrome