Lethal infantile mitochondrial myopathy (Q106072): Difference between revisions
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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 |
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| 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. |
