Matthews P M, Marchington D R, Squier M, Land J, Brown R M, Brown G K
Department of Biochemistry, University of Oxford, UK.
Ann Neurol. 1993 Jun;33(6):652-5. doi: 10.1002/ana.410330616.
We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation is an A to C transversion in the pyruvate dehydrogenase complex E1 alpha subunit gene. As the E1 alpha subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance.
我们报告了一名患有坏死性脑脊髓病（Leigh综合征）且伴有丙酮酸脱氢酶复合物活性缺乏的患者。潜在突变是丙酮酸脱氢酶复合物E1α亚基基因中的A到C颠换。由于E1α亚基在X染色体上编码，这一观察结果证实，一些Leigh综合征患者可能存在X连锁遗传。
