Autosomal recessive cardiomyopathy or ophthalmoplegia (Q41403): Difference between revisions
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A cardiomiopatia autossômica recessiva e oftalmoplegia é uma doença de início na infância caracterizada por oftalmoplegia externa progressiva, fraqueza leve facial e dos membros proximais e cardiomiopatia grave. As biópsias musculares são negativas para fibras vermelhas rotas e para a citocromo C oxidase; as atividades de vários complexos na cadeia de transporte de elétrons estão diminuídas. Acredita-se que a combinação de oftalmoplegia externa progressiva, cardiomiopatia e múltiplas deleções de DNAmt sejam decorrentes de um defeito de comunicação entre os genomas nuclear e mitocondrial. | |||
| description / en | description / en | ||
Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes. | |||
Revision as of 07:33, 13 August 2026
Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes.
| Language | Label | Description | Also known as |
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| default for all languages | 8C73.0 |
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| English | Autosomal recessive cardiomyopathy or ophthalmoplegia |
Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes. |
