Condition: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
rs183973249 in
TMEM70 gene and
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
PMID 20937241 2011 Expression and processing of the TMEM70 protein.
PMID 22433607 2012 Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
PMID 26550569 2015 ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
PMID 21815885 2011 Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
PMID 21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
PMID 24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.