Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
Keiichi HironoFukiko IchidaNatsuhito NishioMinako Ogawa-TominagaTakuya FushimiRene G FeichtingerJohannes A MayrMasakazu KohdaYoshihito KishitaYasushi OkazakiAkira OhtakeKei MurayamaPublished in: Clinical case reports (2019)
We identified novel compound heterozygous TMEM70 variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The urinary organic acids profile revealed elevated levels of 3-MGA, and BN-PAGE/Western blotting analysis and ETC. activity confirmed complex V deficiency.
Keyphrases
- left ventricular
- case report
- copy number
- heart failure
- early onset
- hypertrophic cardiomyopathy
- acute myocardial infarction
- mitral valve
- aortic stenosis
- oxidative stress
- cardiac resynchronization therapy
- left atrial
- replacement therapy
- south africa
- single cell
- dna methylation
- transcatheter aortic valve replacement
- smoking cessation