线粒体基因组发生点突变[tRNA(Leu(UUR))]的患者（线粒体脑肌病伴乳酸血症和卒中样发作）组织中的呼吸链活性
Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].
作者信息
Obermaier-Kusser B, Paetzke-Brunner I, Enter C, Müller-Höcker J, Zierz S, Ruitenbeek W, Gerbitz K D
机构信息
Institute für Klinische Chemie und Diabetesforschung, Städt, Krankenhaus München-Schwabing, Germany.
出版信息
FEBS Lett. 1991 Jul 29;286(1-2):67-70. doi: 10.1016/0014-5793(91)80942-v.
A heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNA(Leu(UUR)) gene is indicative for myo-encephalopathy with lactic acidosis and stroke-like episodes (MELAS). Decreased respiratory chain complex activities measured in different tissues from four patients with MELAS syndrome do not correlate with the proportion of mutated mitochondrial genome.
一种异质性点突变（线粒体tRNA（Leu（UUR））基因第3243位的A到G转换）提示为伴有乳酸性酸中毒和卒中样发作的肌病脑病（MELAS）。在4例MELAS综合征患者的不同组织中检测到的呼吸链复合体活性降低与突变线粒体基因组的比例无关。
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