Article
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Molecular genetics and metabolism - 1 Nov 2020
Tort Frederic, Barredo Estibaliz, Parthasarathy Ranjani, Ugarteburu Olatz, Ferrer-Cortès Xenia, García-Villoria Judit, Gort Laura, González-Quintana Adrián, Martín Miguel A, Fernández-Vizarra Erika, Zeviani Massimo, Ribes Antonia
Abstract excerpt
Isolated complex I (CI) deficiency is the most common cause of oxidative phosphorylation (OXPHOS) dysfunction. Whole-exome sequencing identified biallelic mutations in NDUFA8 (c.[293G > T]; [293G > T], encoding for an accessory subunit of CI, in two siblings with a favorable clinical evolution. The individuals reported here are practically asymptomatic, with the exception of slight failure to thrive and some...
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