Degoul F, Diry M, Pou-Serradell A, Lloreta J, Marsac C
INSERUM U75, Paris, France.
Ann Neurol. 1994 Mar;35(3):365-70. doi: 10.1002/ana.410350321.
Two dizygotic twins with myopathy and leukoencephalopathy are described. The female twin had an incomplete form of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and strokelike episodes) with severe myopathy, epileptic seizures without strokelike episodes. The male twin presented clinical features exclusively of myopathy and subclinical leukoencephalopathy. The MELAS mitochondrial DNA point mutation (MELAS-3243) was found by southern blot and polymerase chain reaction in muscle, skin fibroblasts, and blood of the female twin and was not detected in the skin fibroblasts nor in the blood of the mother, nor in any of the tissues tested in the male twin. The absence of mutation in male twin tissues raises questions about the pathogenetic significance of the mutation in this family.
本文描述了一对患有肌病和白质脑病的异卵双胞胎。女性双胞胎患有不完全型MELAS综合征（肌病、脑病、乳酸性酸中毒和类卒中发作），伴有严重肌病，有癫痫发作但无类卒中发作。男性双胞胎仅表现出肌病和亚临床白质脑病的临床特征。通过Southern印迹法和聚合酶链反应在女性双胞胎的肌肉、皮肤成纤维细胞和血液中发现了MELAS线粒体DNA点突变（MELAS-3243），在母亲的皮肤成纤维细胞和血液中以及男性双胞胎检测的任何组织中均未检测到该突变。男性双胞胎组织中未发现突变，这引发了关于该家族中该突变致病意义的疑问。
