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- Title
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
- Authors
Llauradó, Arnau; Rovira‐Moreno, Eulalia; Codina‐Solà, Marta; Martínez‐Saez, Elena; Salvadó, Maria; Sanchez‐Tejerina, Daniel; Sotoca, Javier; López‐Diego, Verónica; Restrepo‐Vera, Juan Luis; Garcia‐Arumi, Elena; Juntas‐Morales, Raul
- Abstract
The molecular study of nuclear genes involved in the replication and maintenance of mtDNA identified the c.614A > G (p.Asp205Gly) homozygote variant in exon 6 of the I TOP3A i gene (NM 004618.5). We report two adult siblings with c.614A>G (p.Asp205Gly) homozygous missense variant in the TOP3A gene who had CPEO plus syndrome. Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient.
- Subjects
MISSENSE mutation; GENETIC variation; MITOCHONDRIAL DNA abnormalities; MITOCHONDRIAL DNA; EYE paralysis; NUCLEAR DNA
- Publication
Clinical Genetics, 2023, Vol 103, Issue 4, p492
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14287