Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) 3243 A>G mutation
This is one of the most common causes of mitochondrial disease. Patients with this mutation have variable disease manifestations ranging from no symptoms at all, to being quite severely affected with the syndrome called MELAS , this is the short name for a collection of symptoms calledmitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.