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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.

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