Leigh syndrome associated with TRMU gene mutations

Sala-Coromina, J; Dougherty-de Miguel, L; de las Heras, J; Lasa-Aranzasti, A; Garcia-Arumi, E; Carreno, L; Arranz, JA; Carnicer, C; Unceta-Suarez, M; Sanchez-Montanez, A; Gort, L; Tort, F; del Toro, M

del Toro, M (corresponding author), Vall dHebron Univ Hosp, Pediat Neurol Dept, Passeig Vall dHebron 119-129, Barcelona 08035, Spain.

MOLECULAR GENETICS AND METABOLISM REPORTS, 2021; 26 ():

Abstract

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far ......

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