Mitsuoka T, Kawarai T, Watanabe C, Katayama S, Nakamura S
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
No To Shinkei. 1998 Dec;50(12):1089-92.
We compared clinical pictures of a case of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) point mutation at nucleotide position 3254 of mitochondrial DNA with those at position 3243. The mutation 3254 was a 19-year-old male patient with cardiomyopathy accompanied with muscle atrophy. The first mutant 3243 was a 31-year-old female patient showing clinical features of MELAS and endocrinological abnormalities. The second 3243 mutant was a 27-year-old male patient who had an external ophthalmoplegia and slight mental decline. In all cases, muscle biopsy specimen showed ragged red fibers and strongly SDH-reactive blood vessels, but their limb weakness were unremarkable. These results suggest that tRNA(Leu(UUR)) point mutation 3254 exhibits similar clinical phenotypes as those observed in 3243 mutant.
我们比较了线粒体DNA核苷酸位置3254处发生tRNA（Leu（UUR））点突变的线粒体脑肌病病例与3243处病例的临床表现。3254突变的是一名19岁男性患者，患有心肌病并伴有肌肉萎缩。第一个3243突变体是一名31岁女性患者，表现出线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）的临床特征以及内分泌异常。第二个3243突变体是一名27岁男性患者，患有眼外肌麻痹和轻度智力衰退。在所有病例中，肌肉活检标本均显示破碎红纤维和强琥珀酸脱氢酶（SDH）反应性血管，但他们的肢体无力并不明显。这些结果表明，3254处的tRNA（Leu（UUR））点突变表现出与3243突变体中观察到的相似临床表型。
