We identified novel compound heterozygous 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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| http://dx.doi.org/10.1002/ccr3.2050 | DOI Listing |
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