Marsac C, Degoul F, Bonne G, Romero N, Nelson I, Fardeau M, François D, Ponsot G, Harpey J P, Eymard B
INSERM U 75, Paris, France.
Rev Neurol (Paris). 1991;147(6-7):462-6.
Biochemical results concerning 64 patients suspected of mitochondrial myopathies are presented. Four clinical groups were studied including 21 encephalomyopathies, 42 ocular myopathies, 8 isolated myopathies and 3 cardiomyopathies. In 26 cases, the coexistence of a normal mitochondrial DNA and a mutated mitochondrial DNA (heteroplasmy) was found (19 simple deletions, 4 multiple deletions and 3 punctual mutations) and all cases presented with ocular disorders (excepted 2 cases with MERRF). Furthermore, 1 complex I deficiency (1 ocular myopathy), 1 complex IV deficiency (1 adult encephalomyopathy type Leigh), 3 complexes I + IV deficiencies (2 cases with a cardiomyopathy and 1 familial MELAS) and 2 pyruvate (1 adult from of Leigh's encephalomyopathy) dehydrogenase deficiencies (clinically and genetically different) did not show evidence of mitochondrial DNA mutation.
本文展示了64例疑似线粒体肌病患者的生化检查结果。研究了四个临床组，包括21例脑肌病、42例眼肌病、8例孤立性肌病和3例心肌病。在26例患者中，发现存在正常线粒体DNA与突变线粒体DNA共存的情况（异质性）（19例为单纯缺失、4例为多重缺失和3例为点突变），且所有病例均有眼部疾病（2例肌阵挛性癫痫伴破碎红纤维综合征患者除外）。此外，1例复合体I缺陷（1例眼肌病）、1例复合体IV缺陷（1例成人 Leigh 型脑病）、3例复合体I + IV缺陷（2例心肌病患者和1例家族性线粒体脑肌病伴乳酸血症和卒中样发作）以及2例丙酮酸脱氢酶缺陷（1例成人 Leigh 型脑病，临床和基因方面均不同）均未显示线粒体DNA突变的证据。
