de Vries D D, van Engelen B G, Gabreëls F J, Ruitenbeek W, van Oost B A
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Ann Neurol. 1993 Sep;34(3):410-2. doi: 10.1002/ana.410340319.
By direct sequencing, we have discovered a novel heteroplasmic mutation (T-->C) at nucleotide position 8993 in the mitochondrial ATPase 6 gene in a family with Leigh's syndrome. Another mutation in the same codon (T8993G) has been reported before in Leigh's syndrome. As these two mutations led to different amino acid substitutions, it provides strong evidence for the relevance of ATP synthase dysfunction in maternally inherited Leigh's syndrome.
通过直接测序，我们在一个患有 Leigh 综合征的家族中发现线粒体 ATP 酶 6 基因第 8993 位核苷酸处存在一种新的异质性突变（T→C）。之前在 Leigh 综合征中曾报道过同一密码子的另一种突变（T8993G）。由于这两种突变导致不同的氨基酸替代，这为母系遗传的 Leigh 综合征中 ATP 合酶功能障碍的相关性提供了有力证据。
