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progressive external ophthalmoplegia, autosomal dominant, with mitochondrial DNA deletions 5 (PEOA5)

Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-5 (PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712) on chromosome 8q23.1.
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. 

OTHER NAME(S): progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant

ABREVIATION(S):
PEOA5

TYPE: neurodegenerative disease, eye or vision problem

Related patway(s): modulation of nucleotide pools

DNAtraffic protein(s) related to disease: RRM2B

OMIM: 613077

Last modification date: July 30, 2011