Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder

Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is a nuclear-encoded gene that produces a protein involved in mitochondrial translation. MTFMT formylates a portion of Met-tRNA(Met), which allows for translation initiation of mitochondrial mRNA. Mutations in this gene have been shown to result...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Bennett, Jennifer, Kerr, Marina, Greenway, Steven C., Friederich, Marisa W., Van Hove, Johan L.K., Hittel, Dustin, Khan, Aneal
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7303673/
https://ncbi.nlm.nih.gov/pubmed/32577402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100616
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