Maternally-inherited Leigh syndrome
Maternally-inherited Leigh syndrome
Definition
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Also known as maternally-inherited infantile subacute necrotizing encephalopathy, maternally-inherited Leigh disease, MILS — per MONDO