JOURNAL ARTICLE

Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.

  • Published In: Clinical Genetics, 2023, v. 103, n. 4. P. 492 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: 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 3 of 3

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. [Extracted from the article]

Additional Information

  • Source:Clinical Genetics. 2023/04, Vol. 103, Issue 4, p492
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2023
  • ISSN:0009-9163
  • DOI:10.1111/cge.14287
  • Accession Number:162167840
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