ATP synthase deficiency

[1]. Alena Cízková, et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet. 2008 Nov;40(11):1288-90. [Content Brief]

[2]. An I Jonckheere, et al. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. Brain. 2013 May;136(Pt 5):1544-54. [Content Brief]

[3]. D Thyagarajan, et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol. 1995 Sep;38(3):468-72. [Content Brief]

[4]. Emanuele Barca, et al. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. [Content Brief]

[5]. Johannes A Mayr, et al. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet. 2010 Sep 1;19(17):3430-9. [Content Brief]

[6]. L De Meirleir, et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4. [Content Brief]

[7]. Monika Oláhová, et al. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. [Content Brief]

[8]. S M Ware, et al. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009 May;46(5):308-14. [Content Brief]