COQ7 Defect Causes Prenatal Onset of Mitochondrial CoQ10 Deficiency with Cardiomyopathy

Medicine, Endocrinology, Gastroenterology, Cardiovascular System, Life Sciences, Genetics,
COQ7 gene   Mitochondrial CoQ10 deficiency   Cardiomyopathy   Gastrointestinal obstruction   Familial genetics   Therapeutic intervention   Prenatal onset  

Perinatal onset of mitochondrial CoQ10 deficiency due to COQ7 defect with cardiomyopathy and gastrointestinal obstruction Background Coenzyme Q10 (CoQ10) is a lipid-soluble molecule with antioxidant properties and a key component in electron transfer during oxidative phosphorylation in mitochondria. CoQ10 deficiency is a rare mitochondrial metaboli...