| A rare mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver. |
