Our group previously published about a patient with a LS/MELAS (Leigh syndrome/mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) overlap phenotype associated with a novel mitochondrial mutation in the ND5 gene.¹ At that time, his 38-year-old mother presented only migraine and asymptomatic bilateral optic atrophy, without other neurologic signs or symptoms. Headache attacks, occurring about twice a month, were localized mainly in the right frontoparietal region, sometimes associated with nausea or vomit or phonophotophobia, and were responsive to nonsteroidal anti-inflammatory drugs. She carried lower levels of heteroplasmy of the same A13084T mutation (57% in lymphocytes and 48% in fibroblasts) compared with her son (82% in blood and 72% in fibroblasts).

我们的研究小组先前曾发表过一篇关于LS / MELAS（利氏综合征/线粒体肌病，脑病，乳酸性酸中毒和中风样发作）的患者重叠表型与ND5基因中新型线粒体突变相关的信息。^1个当时，他的38岁母亲仅表现出偏头痛和无症状的双侧视神经萎缩，而没有其他神经系统症状或体征。头痛发作大约每月发生两次，主要发生在右侧的前额叶区域，有时伴有恶心，呕吐或畏光，对非甾体类抗炎药有反应。与她的儿子（血液中82％，成纤维细胞中72％）相比，她携带相同A13084T突变的异质性水平较低（淋巴细胞中57％，成纤维细胞中48％）。