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| GENATLAS PHENOTYPE |
| last update : 20-06-2012 |
| Symbol | PEO4 |
| Location | 17q24.1 |
| Name | progressive external ophthalmoplegia 4 |
| Other name(s) | progressive external ophthalmoplegia with mitochondrial DNA deletions |
| Corresponding gene | POLG2 |
| Other symbol(s) | PEOA4 |
| Main clinical features | progressive external ophthalmoplegia, late-onset , with multiple mtDNA deletions and cytochrome c oxidase (COX) deficient muscle fibers |
| Genetic determination | autosomal dominant |
| Function/system disorder | eye |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| unknown
|
|
| G451E mutation disrupts interaction between the accessory subunit and the catalytic subunit, ultimately causing the multiple deletions in the mtDNA
| |
| Remark(s) | . c.1352G>A, associated with PEO4, ptosis, exercise intolerance, muscle pain, mild weakness of facial and limb muscles, and impaired glucose tolerance, mutation retained the ability to bind DNA but was unable to physically associate with p140, which eliminated the ability to stimulate processive DNA synthesis (PMID:21555342)) |