Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

by Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira, Luiza do A. Virmond, Marina de França B. Silva, Maria de Fatima F. Soares, Simone Brasil de O. Iglesias, Ariane Falconi, Juliana S. Silva, Viviane Nakano, Maria Fernanda Milanezi, Carmen Silvia C. Mendes, Marco Antonio Curiati, Cecília Micheletti