Pure mitochondrial myopathy (Q106079): Difference between revisions
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Grupo de transtornos caracterizado pelo acúmulo sub-sarcolemal de mitocôndrias anormais e fibras vermelhas irregulares que aparecem na coloração tricrômica de Gomori. O acúmulo causa um defeito na fosforilação oxidativa afetando a musculatura esquelética. Pode se manifestar com fraqueza proximal, intolerância a exercícios, dispneia aos esforços, acidose láctica, mialgias difusas e anomalias dos músculos oculares. As mutações da posição 3250 do genoma mitocondrial estão associadas às miopatias mitocondriais puras e normalmente há antecedente familiar. | |||
| description / en | description / en | ||
Group of disorders characterized by sub-sarcolemmal accumulation of abnormal mitochondria and ragged red fibers which appear on Gomori trichrome stain Accumulation causes a defect in oxidative phosphorylation affecting the skeletal muscle. May present with proximal weakness, exercise intolerance, exertional dyspnea, lactic acidosis, diffuse myalgias, and eye muscle anomalies. Mutations of position 3250 of the mitochondrial genome are associated with the pure mitochondrial myopathies and there is typically a family history of similar problems. | |||
Revision as of 12:52, 17 August 2026
Group of disorders characterized by sub-sarcolemmal accumulation of abnormal mitochondria and ragged red fibers which appear on Gomori trichrome stain Accumulation causes a defect in oxidative phosphorylation affecting the skeletal muscle. May present with proximal weakness, exercise intolerance, exertional dyspnea, lactic acidosis, diffuse myalgias, and eye muscle anomalies. Mutations of position 3250 of the mitochondrial genome are associated with the pure mitochondrial myopathies and there is typically a family history of similar problems.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_141365898 |
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| English | Pure mitochondrial myopathy |
Group of disorders characterized by sub-sarcolemmal accumulation of abnormal mitochondria and ragged red fibers which appear on Gomori trichrome stain Accumulation causes a defect in oxidative phosphorylation affecting the skeletal muscle. May present with proximal weakness, exercise intolerance, exertional dyspnea, lactic acidosis, diffuse myalgias, and eye muscle anomalies. Mutations of position 3250 of the mitochondrial genome are associated with the pure mitochondrial myopathies and there is typically a family history of similar problems. |
