Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder
Róisín M. Boggan, Yi Shiau Ng, Imogen G. Franklin, Charlotte L. Alston, Emma L. Blakely, Boriana Büchner, Enrico Bugiardini, Kevin Colclough, Catherine L Feeney, Michael G. Hanna, Andrew Tym Hattersley, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso, Kashyap Amratlal Patel, , Sarah J. Pickett
This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.
medRxiv · Nov 18, 2022 · PreprintGenetic & Genomic Medicine