Leigh Syndrome Associated with TRMU Gene Mutations

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2021-03
Autor
Sala Coromina, Julia
Dougherty de Miguel, Lucia
De las Heras Montero, Javier Adolfo
Lasa Aranzasti, Amaia
García Arumí, Elena
Carreño, Lidia
Arranz, José Antonio
Carnicer, Clara
Unceta Suárez, María
Sánchez Montañez, Ángel
Gort, Laura
Tort, Frederic
Del Toro, Mireia
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Molecular Genetics And Metabolism Reports 26 : (2021) // Article ID 100690
URI
http://hdl.handle.net/10810/51193
Resumen
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease
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his is an open access article under the CC BY-NC-ND license
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