Catalog

Lethal infantile mitochondrial myopathy

No MMS code

Link to WHO Definition

Lethal infantile mitochondrial myopathy – http://id.who.int/icd/entity/642272262

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.