Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

By G. Goethem, B. Dermaut, A. Löfgren, J. Martin, Christine Van Broeckhoven. Nature Genetics, 2001

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Mitochondria: In Sickness and in Health (2012, background): “The most common nuclear mutations associated with mitochondrial diseases are found in the gene encoding mitochondrial DNA polymerase g and can manifest as early-onset hepatocerebral disorder, juvenile catastrophic epilepsy, or adult-onset ataxia-neuropathy syndrome (Euro et al., 2011; Hakonen et al.”
Mitochondrial dynamics in mammalian health and disease. (2009, background): “In this regard, mutations in genes encoding Twinkle (PEO1) (174, 279), the catalytic and accessory subunits of mtDNA polymerase (POLG1 and POLG2) (194, 305), cause the autosomal dominant progressive external ophthalmoplegia (adPEO), an adult-onset mitochondrial disorder characterized by ophthalmopar”
Mitochondrial Energetics and Therapeutics (2010, neutral): “F or p er so na l u se o nl y. Table 1 Examples of nuclear DNA mutations that cause mitochondrial diseasesa Gene name Function Chromosome Inheritance Clinical phenotype Reference(s) NDUFS8 Complex I 11q13 AR Leigh syndrome 73 SURF1 Complex IV assembly 9q34 AR Leigh syndrome 74 C10ORF2 (PEOA3) Twinkl”