Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
Keywords: ظرفیت تنفسی; MLASA; mitochondrial myopathy, lactic acidosis, and sideroblastic anemia; ETC; electron transport chain; CS; citrate synthase; OCR; oxygen consumption rate; OSR; oligomycin sensitive respiration; RC; respiratory capacity; SRC; spare respiratory capacity;