Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations - Bermejo-Guerrero, Laura; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Serrano-Lorenzo, Pablo; Blázquez-Encinar, Alberto; Gutiérrez-Gutiérrez, Gerardo; Martínez-Vicente, Laura; Galán-Dávila, Lucía; García-García, Jorge; Arenas, Joaquín; Muelas, Nuria; Hernández-Laín, Aurelio; Domínguez-González, Cristina; et al. (Journal of clinical medicine, 2021)
Keywords: Ataxia; Clinical medicine; Genes; Laboratories; Medical imaging; Mitochondrial DNA; Mutation; Myasthenia gravis; Neuromuscular diseases; Patients; Phylogenetics; mtDNA maintenance defects; TWNK gene; mitochondrial dysfunction; progressive external ophthalmoplegia