Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
Thomas Johnstone, Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang, Rena A. Godfrey, Catherine Groden, Brandon Barton, William A. Gahl, Camilo Toro, May Christine V. Malicdan
Topics & Concepts
ProbandBiologyPhenotypeLeigh diseaseRespiratory chainRNA splicingMitochondrial biogenesisGeneticsGeneMitochondrionMutationRNAMitochondrial Function and PathologyMetabolism and Genetic DisordersRNA and protein synthesis mechanisms