Autosomal recessive progressive external ophthalmoplegia
Definition:
References:
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[1]. Aurelio Reyes, et al. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. [Content Brief]
[2]. Bruce H Cohen, et al. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods. 2010 Aug;51(4):364-73. [Content Brief]
[3]. Dario Ronchi, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain. 2012 Nov;135(Pt 11):3404-15. [Content Brief]
[4]. G Van Goethem, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. [Content Brief]
[5]. Henna Tyynismaa, et al. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet. 2012 Jan 1;21(1):66-75. [Content Brief]
[6]. Thomas J Nicholls, et al. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Mol Cell. 2018 Jan 4;69(1):9-23.e6. [Content Brief]
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