Sengers syndrome
Sengers syndrome
Definition
Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
Also known as mitochondrial DNA depletion syndrome 10, Sengers syndrome — per MONDO