Francisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, Alberto Blázquez, Juan F Quesada-Espinosa, Jorge Amigo, Pablo Minguez, Carmen Ayuso, Elena García-Arumí, Nuria Muelas, Teresa Jaijo, Andres Nascimento, Beatriz Galán-Rodriguez, Carmen Paradas, Joaquín Arenas, Angel Carracedo, Ramon Martí, Miguel A Martín, Cristina Domínguez-González
OBJECTIVES: Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive disorder that stems from a perturbation of the mitochondrial DNA maintenance. Nucleoside treatment has recently shown promise as a disease-modifying therapy. TK2d was initially associated with rapidly progressive fatal myopathy in children featuring mitochondrial DNA depletion. Subsequently, less severe variants of the disease were described, with onset of symptoms during adolescence or adulthood and associated with the presence of multiple mtDNA deletions...
April 2024: Neurology. Genetics