Mitochondrial myopathies (Q41402): Difference between revisions
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Miopatias mitocondriais são um grupo heterogêneo de transtornos causados por disfunção da fosforilação oxidativa mitocondrial e podem ser classificadas de acordo com os defeitos bioquímicos, genéticos (no DNA mitocondrial ou em proteínas codificadas pelo núcleo) associados ou fenótipo clínico. Exclui: defeitos da cadeia respiratória mitocondrial, síndrome de Kearns-Sayre, epilepsia mioclônica com fibras vermelhas irregulares (MERRF) | |||
| description / en | description / en | ||
Mitochondrial myopathies are heterogeneous group of disorders caused by dysfunction of mitochondrial oxidative phosphorylation and can be classified according to the associated biochemical, genetic defects (in the mitochondrial DNA or in nuclear encoded proteins) or clinical phenotype. Exclude: defects of mitochondrial respiratory chain, Kearns-Sayre syndrome, myoclonic epilepsy with ragged red fibres (MERRF) | |||
Revision as of 07:33, 13 August 2026
Mitochondrial myopathies are heterogeneous group of disorders caused by dysfunction of mitochondrial oxidative phosphorylation and can be classified according to the associated biochemical, genetic defects (in the mitochondrial DNA or in nuclear encoded proteins) or clinical phenotype. Exclude: defects of mitochondrial respiratory chain, Kearns-Sayre syndrome, myoclonic epilepsy with ragged red fibres (MERRF)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8C73 |
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| English | Mitochondrial myopathies |
Mitochondrial myopathies are heterogeneous group of disorders caused by dysfunction of mitochondrial oxidative phosphorylation and can be classified according to the associated biochemical, genetic defects (in the mitochondrial DNA or in nuclear encoded proteins) or clinical phenotype. Exclude: defects of mitochondrial respiratory chain, Kearns-Sayre syndrome, myoclonic epilepsy with ragged red fibres (MERRF) |
