KEGG   DISEASE: H01118Help
Entry
H01118                      Disease                                

Name
Progressive external ophthalmoplegia (PEO)
Description
Progressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with mtDNA depletion and/or accumulation of mtDNA point mutations and deletions. PEO is characterized by late onset bilateral ptosis and progressive weakening of the external eye muscle, resulting in blepharoptosis and ophthalmoparesis, proximal muscle weakness, and wasting as well as exercise intolerance. Muscle biopsy results typically show ragged red fibers and cytochrome c oxidase-negative fibers. PEO is transmitted as dominant or recessive traits.
Category
Nervous system disease; Musculoskeletal disease; Eye disease; Inherited metabolic disease
BRITE hierarchy
Pathway
Calcium signaling pathway
Purine metabolism
Pyrimidine metabolism
Glutathione metabolism
Gene
ANT1 [HSA:291] [KO:K05863]
TWINKLE [HSA:56652] [KO:K17680]
POLG [HSA:5428] [KO:K02332]
POLG2 [HSA:11232] [KO:K02333]
RRM2B [HSA:50484] [KO:K10808]
Other DBs
Reference
PMID:12975295 (description, gene)
  Authors
Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S
  Title
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
  Journal
Arch Neurol 60:1279-84 (2003)
Reference
PMID:12835509 (description, gene)
  Authors
Van Goethem G, Martin JJ, Van Broeckhoven C
  Title
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
  Journal
Neuromolecular Med 3:129-46 (2003)
Reference
PMID:22176657 (description, gene)
  Authors
Copeland WC
  Title
Defects in mitochondrial DNA replication and human disease.
  Journal
Crit Rev Biochem Mol Biol 47:64-74 (2012)

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