Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
Arnaud Wiedemann, Abderrahim Oussalah, Jean-Louis Guéant, Pascal Reynier, Matthias R Baumgartner, Brian Fowler, Jean-Philippe Neau, Christian Lavigne, François Feillet, Valérie Desquiret-Dumas, Naïg Gueguen, Justine Flayac, David Coelho, Céline Chery
Journal of human genetics 2020;65(2):91-98