Mayr et al. (2010) described a 22-year-old Austrian woman (P3), previously reported by Cizkova et al. (2008), with a history of neonatal-onset lactic acidosis, 3-methylglutaconic aciduria, mild mental retardation, hypertrophic cardiomyopathy, and peripheral neuropathy. Fibroblasts showed a 60 ... Mayr et al. (2010) described a 22-year-old Austrian woman (P3), previously reported by Cizkova et al. (2008), with a history of neonatal-onset lactic acidosis, 3-methylglutaconic aciduria, mild mental retardation, hypertrophic cardiomyopathy, and peripheral neuropathy. Fibroblasts showed a 60 to 70% decrease in both oligomycin-sensitive ATPase activity and mitochondrial ATP synthesis. The mitochondrial content of the ATP synthase complex was equally reduced, but its size was normal.
In an Austrian woman with ATP synthase deficiency in whom mutation in the TMEM70 gene (612418) had been excluded (Cizkova et al., 2008), Mayr et al. (2010) identified a homozygous tyr12-to-cys (Y12C) mutation in the ATP5E gene (606153.0001). ... In an Austrian woman with ATP synthase deficiency in whom mutation in the TMEM70 gene (612418) had been excluded (Cizkova et al., 2008), Mayr et al. (2010) identified a homozygous tyr12-to-cys (Y12C) mutation in the ATP5E gene (606153.0001). The healthy, nonconsanguineous parents were heterozygous for the mutation, which was not found in 180 Austrian control chromosomes.