Митохондриальная гипертрофическая кардиомиопатия с лактот-ацидозом вследствие дефицита МТО1
Определение
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.