Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation
Adrián González-Quintana, María José Trujillo-Tiebas, Ana Laura Fernández‐Perrone, Alberto Blázquez, Alejandro Lucía, María Morán, Cristina Ugalde, Joaquı́n Arenas, Carmen Ayuso, Miguel A. Martı́n
Topics & Concepts
Mitochondrial diseaseBiologyGeneticsLactic acidosisUniparental disomyRespiratory chainMitochondrial DNAMitochondrionChromosomeGeneEndocrinologyKaryotypeGenetic Syndromes and ImprintingGenomics and Rare DiseasesMitochondrial Function and Pathology