Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree
Patrick M. Schaefer, Leonardo Scherer Alves, Maria Lvova, Jessica Y. Huang, Komal S. Rathi, Kevin A. Janssen, Arrienne Butic, Tal Yardeni, Ryan M. Morrow, Marie T. Lott, Kierstin N. Keller, Benjamin A. Garcia, Clair A. Francomano, Douglas C. Wallace
The paper identifies a mitochondrial haplogroup mutation interacting with a HDC variant to cause mitochondrial dysfunction and connective tissue disorder.
bioRxiv · Feb 25, 2022 · PreprintGenetics