Condition: Isolated ATP synthase deficiency


rs796052056 in TMEM70 gene and Isolated ATP synthase deficiency PMID 25326274 2015 TMEM70 deficiency: long-term outcome of 48 patients.

PMID 20335238 2010 Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

PMID 20920610 2011 Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.