Lethal infantile mitochondrial myopathy (Q106072): Difference between revisions
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Transtorno raro da fosforilação oxidativa mitocondrial de caráter congênito que se apresenta com início precoce como fraqueza difusa, acidose láctica e encefalopatia com morte eventual no primeiro ano de vida. A condição está associada a fibras vermelhas rotas no tecido muscular e atividade mínima ou ausente da citocromo oxidase. | |||
| description / en | description / en | ||
Rare mitochondrial oxidative phosphorylation disorder that presents with congenital onset of diffuse weakness, lactic acidosis, and encephalopathy with eventual fatality in the 1st year of life. The condition is associated with red ragged fibers in muscle tissue and minimal to absent cytochrome oxidase activity. | |||
Revision as of 12:51, 17 August 2026
Rare mitochondrial oxidative phosphorylation disorder that presents with congenital onset of diffuse weakness, lactic acidosis, and encephalopathy with eventual fatality in the 1st year of life. The condition is associated with red ragged fibers in muscle tissue and minimal to absent cytochrome oxidase activity.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_642272262 |
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| English | Lethal infantile mitochondrial myopathy |
Rare mitochondrial oxidative phosphorylation disorder that presents with congenital onset of diffuse weakness, lactic acidosis, and encephalopathy with eventual fatality in the 1st year of life. The condition is associated with red ragged fibers in muscle tissue and minimal to absent cytochrome oxidase activity. |
