Article
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
Molecular genetics and metabolism - 1 Nov 2020
González-Quintana Adrián, Trujillo-Tiebas María J, Fernández-Perrone Ana L, Blázquez Alberto, Lucia Alejandro, Morán María, Ugalde Cristina, Arenas Joaquín, Ayuso Carmen, Martín Miguel A
Abstract excerpt
Uniparental disomy (UPD) is an underestimated cause of autosomal recessive disorders. In this study, we aim to raise awareness about the possibility of UPD in mitochondrial disorders - where it is a hardly described event -, by functionally characterizing a novel variant in a structural subunit of complex I (CI) of the mitochondrial oxidative phosphorylation system. Using next-generation sequencing, we identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.