1.
Clin Case Rep
; 7(3): 553-557, 2019 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30899493
RESUMO
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.