A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

作者：D. Daniëlle de Vries, Baziel G.M. van Engelen, Fons J.M. Gabreëls, W. Ruitenbeek, Bernard A. van Oost · 发表于：Annals of Neurology · 年份：1993 · DOI：10.1002/ana.410340319 · 被引用次数：262 · 研究领域：Mitochondrial Function and Pathology、ATP Synthase and ATPases Research、Metabolism and Genetic Disorders

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.