Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes.
Shoubridge EA.
Ann Neurol. 1996 Nov;40(5):693-4. doi: 10.1002/ana.410400503.
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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
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response.
Cherny C, Sherman SW, Dagi Glass LR.
J Neuroophthalmol. 2021 Mar 1;41(1):137-138. doi: 10.1097/WNO.0000000000001066.