A novel variant of MIEF2 gene expands the clinical spectrum of combined oxidative phosphorylation deficiency 49
Combined oxidative phosphorylation deficiency (COXPD) encompasses a highly heterogeneous group of inherited mitochondrial disorders characterized by a fundamental defect in cellular energy production. Combined oxidative phosphorylation deficiency type 49 (COXPD49) is an ultra-rare subtype caused by mutations in the...