Progressive external ophthalmoplegia, autosomal dominant, type 5 (Q97287): Difference between revisions
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Oftalmoplegia externa progressiva autossômica dominante com deleções-5 do DNA mitocondrial (PEOA5) é causada pela mutação heterozigótica no gene RRM2B (604712) no cromossomo 8q13. Pacientes têm oftalmoplegia externa progressiva com manifestações adicionais variáveis incluindo ptose, fadiga, disfagia, miopatia proximal, disartria, ataxia, sintomas gastrointestinais e diabetes. Biópsia de músculo esquelético mostra um defeito tipo mosaico da atividade da citocromo c oxidase e múltiplas deleções de DNA mitocondrial. | |||
| description / en | description / en | ||
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5 (PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712) on chromosome 8q23.1. Patients had progressive external ophthalmoplegia with variable additional features, including ptosis, fatigue, dysphagia, proximal myopathy, dysarthria, ataxia, gastrointestinal symptoms, and diabetes. Skeletal muscle biopsy shows a mosaic defect of Cytochrome c oxidase activity and multiple mitochondrial DNA deletions. | |||
Revision as of 13:23, 16 August 2026
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5 (PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712) on chromosome 8q23.1. Patients had progressive external ophthalmoplegia with variable additional features, including ptosis, fatigue, dysphagia, proximal myopathy, dysarthria, ataxia, gastrointestinal symptoms, and diabetes. Skeletal muscle biopsy shows a mosaic defect of Cytochrome c oxidase activity and multiple mitochondrial DNA deletions.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1564733568 |
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| English | Progressive external ophthalmoplegia, autosomal dominant, type 5 |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5 (PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712) on chromosome 8q23.1. Patients had progressive external ophthalmoplegia with variable additional features, including ptosis, fatigue, dysphagia, proximal myopathy, dysarthria, ataxia, gastrointestinal symptoms, and diabetes. Skeletal muscle biopsy shows a mosaic defect of Cytochrome c oxidase activity and multiple mitochondrial DNA deletions. |
