AGK and Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy: It has been shown that loss-of-function mutations in the AGK gene cause Sengers syndrome (281–286), an autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis.