Respiratory chain complex III deficiency in patients with tRNA-leu mutation
, “Respiratory chain complex III deficiency in patients with tRNA-leu mutation”, vol. 14, pp. 18629-18636, 2015.
The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotometrically measured. The entire mitochondrial DNA (mtDNA) sequence was analyzed. Samples obtained from the three patients and their families were subjected to restriction fragment length polymorphism and gene sequencing analyses.
