Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, Alison J Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, César Augusto Pinheiro Ferreira Alves, Anna Ardissone, Renkui Bai, Isabella Peixoto de Barcelos, Enrico Bertini, Krista Bluske, John Christodoulou, Amanda R Clause, William C Copeland, George A Diaz, Daria Diodato, Matthew C Dulik, Greg Enns, Annette Feigenbaum, Carl Fratter, Daniele Ghezzi, Amy Goldstein, Andrea Gropman, Richard Haas, Amel Karaa, Mary Kay Koenig, Berrin Monteleone, Sumit Parikh, Belen Perez Duenas, Revathi Rajkumar, Ann Saada, Russell P Saneto, Kate Sergeant, John Shoffner, Conrad Smith, Christine Stanley, Isabelle Thiffault, David Thorburn, Melissa Walker, Douglas Wallace, Lee-Jun Wong, Xiaowu Gai, Marni J Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman
OBJECTIVE: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of PMD in children, but may also present in adults. A major challenge for accurate diagnosis of LSS in the genomic medicine era is establishing gene-disease relationships (GDRs) for this syndrome with >100 monogenic causes across both nuclear and mitochondrial genomes...
May 31, 2023: Annals of Neurology