Мітохондріальна ДНК-асоційована хвороба Лі
ORPHA:255210· ICD-10 E88.8· Mitochondrial DNA-associated Leigh syndrome
Визначення(English summary)
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) 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.
- Поширеність
- Unknown
- Успадкування
- Mitochondrial inheritance
- Вік початку
- Childhood, Infancy