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.