
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation
Keywords: فسفوریلاسیون اکسیداتیو; SCO2; synthesis of COX, cytochrome c oxidase; OXPHOS; oxidative phosphorylation; SMA; spinal muscular atrophy; SCO2 gene mutations; Novel mutation; Natural history; Genotype-phenotype correlation;