Progressive external ophthalmoplegia, autosomal dominant, type 1 (Q97268): Difference between revisions
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Oftalmoplegia externa progressiva autossômica dominante com deleções-1 do DNA mitocondrial (PEOA1) é causada pela mutação no gene DNA polimerase-gama (POLG; 17763) no cromossomo 15q25. As características clínicas mais comuns incluem início na idade adulta de fraqueza dos músculos externos do olho e intolerância ao exercício. Sintomas adicionais são variáveis e podem incluir catarata, perda auditiva, neuropatia sensorial axonal, ataxia, depressão, hipogonadismo e parkinsonismo. Oftalmoplegia externa progressiva causada pela mutação no gene POLG é associada com fenótipos mais complicados que as formas causadas pela mutação nos genes ANT1 e C10ORF2. | |||
| description / en | description / en | ||
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-1 (PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25. 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. Progressive external ophthalmoplegia caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes. | |||
Revision as of 13:21, 16 August 2026
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-1 (PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25. 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. Progressive external ophthalmoplegia caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1743854054 |
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| English | Progressive external ophthalmoplegia, autosomal dominant, type 1 |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-1 (PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25. 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. Progressive external ophthalmoplegia caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes. |
