Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Llauradó A, Rovira-Moreno E, Codina-Solà M, Martínez-Saez E, Salvadó M, Sanchez-Tejerina D, Sotoca J, López-Diego V, Restrepo-Vera JL, Garcia-Arumi E, Juntas-Morales R.
Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28.
PMID:36544354
Update on chronic progressive external ophthalmoplegia.