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    TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

    Stanislav Kmoch and colleagues identify mutations in TMEM70 in individuals with isolated mitochondrial ATP synthase deficiency, and demonstrate that complementation of cell lines of affected individuals with wild...

    Alena Čížková, Viktor Stránecký, Johannes A Mayr, Markéta Tesařová… in Nature Genetics (2008)