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

Arnau Llaurado,Eulalia Rovira-Moreno,Marta Codina-Sola,Elena Martinez-Saez,Maria Salvado,Daniel Sanchez-Tejerina,Javier Sotoca,Veronica Lopez-Diego,Juan Luis Restrepo-Vera,Elena Garcia-Arumi,Raul Juntas-Morales

CLINICAL GENETICS（2023）

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摘要

Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient. We report two adult siblings with c.614A>G (p.Asp205Gly) homozygous missense variant in the TOP3A gene who had CPEO plus syndrome.

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关键词

chronic progressive external ophthalmoplegia,homozygous missense variant,syndrome,gene

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