Lethal infantile mitochondrial myopathy (Q106072): Difference between revisions

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Latest 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
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.