AGK and Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy: In human, autosomal recessive mutations in AGK are associated with Sengers syndrome (10 cases with AGK mutants identified in 12 cases of Sengers syndrome) (87), which was characterized by congenital cataracts, HCM, skeletal myopathy, and lactic acidosis.