Progressive external ophthalmoplegia, autosomal dominant, type 3 (Q97276): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Oftalmoplegia externa progressiva autossômica dominante com deleções-3 do DNA mitocondrial (PEOA3) é causada pela mutação heterozigótica do gene twinkle (C10ORF2; 606075) no cromossomo 10q24. As características clínicas mais comuns incluem início na idade adulta de fraqueza dos músculos externos do olho e intolerância ao exercício. Pacientes com oftalmoplegia externa progressiva ligada ao gene C10ORF2 podem ter outras manifestações clínicas incluindo fraqueza muscular proximal, ataxia, neuropatia periférica, cardiomiopatia, catarata, depressão e anormalidades endócrinas. Oftalmoplegia externa progressiva causada pela mutação no gene POLG é associada com fenótipos mais complicados que as formas causadas pela mutação nos genes SLC25A4 (103220) e C10ORF2. | |||
| description / en | description / en | ||
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3 (PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2; 606075) on chromosome 10q24.The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked autosomal dominant progressive external ophthalmoplegia may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes. | |||
Revision as of 13:22, 16 August 2026
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3 (PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2; 606075) on chromosome 10q24.The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked autosomal dominant progressive external ophthalmoplegia may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1750994167 |
||
| English | Progressive external ophthalmoplegia, autosomal dominant, type 3 |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3 (PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2; 606075) on chromosome 10q24.The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked autosomal dominant progressive external ophthalmoplegia may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes. |
