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Evaluation of Left Ventricular Structure and Function using 3D Echocardiography
Published on: October 28, 2020
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental
Keiichi Hirono1, Fukiko Ichida1, Natsuhito Nishio2
1Department of Pediatrics Graduate School of Medicine University of Toyama Toyama Japan.
Abstract:
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.
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