Prenatal diagnosis of myopathy encephalopathy lactic acidosis and stroke‐like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

摘要

IntroductionMyopathy, encephalopathy, lactic acidosis, and stroke‐like (MELAS) syndrome, a maternally inherited disorder that is among the most common mitochondrial DNA (mtDNA) diseases, is usually associated with the m.3242A>G mutation of the mitochondrial tRNA^leu gene. Very few data are available with respect to prenatal diagnosis of this serious disease. The rate of mutant versus wild‐type mtDNA (heteroplasmy) in fetal DNA is indeed considered to be a poor indicator of postnatal outcome.