MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) - A CORRELATIVE STUDY OF THE CLINICAL-FEATURES AND MITOCHONDRIAL-DNA MUTATION
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) - A CORRELATIVE STUDY OF THE CLINICAL-FEATURES AND MITOCHONDRIAL-DNA MUTATION
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DOI：
10.1212/wnl.42.3.545
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发表时间：
1992-03-01
期刊：
影响因子：
9.9
通讯作者：
NONAKA, I
中科院分区：
文献类型：
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作者：
GOTO, Y;HORAI, S;NONAKA, I
我们研究了40名MELAS患者（21名男性和19名女性），以描述与3，243位核苷酸突变（MELAS中最常见的遗传缺陷）相关的临床特征和生化及肌肉活检结果。 最常见的症状是发作性突发头痛伴呕吐和惊厥，通常影响5至15岁的患者（80%）。 肌肉中的生化缺陷是可变的; 13例患者具有复合物I，7例复合物IV和4例复合物I + IV缺陷。 在四个肌肉活检没有破碎的红色纤维或任何酶的缺陷，我们的诊断的基础上确定强SDH反应性血管，这发生在87.5%的活检。 40例患者中32例（80%）存在mtDNA突变。 我们的结论是，有和没有这种mtDNA突变的患者之间没有临床和病理差异。
We studied 40 MELAS patients (21 male and 19 female) to characterize the clinical features and biochemical and muscle biopsy findings related to the mtDNA mutation at the nucleotide position of 3,243, the most common genetic defect in MELAS. The most frequent symptom was episodic sudden headache with vomiting and convulsions, which commonly affected patients aged 5 to 15 years (80%). Biochemical defects in the muscle were variable; 13 patients had complex I, seven complex IV, and four complexes I + IV deficiencies. In four muscle biopsies without ragged-red fibers or any enzyme defect, we based the diagnosis on the identification of strongly SDH-reactive blood vessels, which occurred in 87.5% of the biopsies. The mtDNA mutation was present in 32 of 40 patients (80%). We conclude that there are no clinical and pathologic differences between the patients with and without this mtDNA mutation.