Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

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

Gert Van Goethem, Bart Dermaut, A. Löfgren et al. · Nature Genetics · 2001 · 831 citations

Ocular Disease, Ophthalmology, Genetic Disorder +8

<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion

Robert K. Naviaux, Khue Vu Nguyen · Annals of Neurology · 2004 · 456 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +15

Phenotypic spectrum associated with mutations of the mitochondrial polymerase   gene

Rita Horváth · Brain · 2006 · 396 citations

Genetics, Molecular Biology, Pathology +16

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Charalampos Tzoulis · Brain · 2006 · 346 citations

Neurological Disorder, Genetics, Genetic Epidemiology +19

Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

Mireille Cossée, M. Schmitt, Victoria Campuzano et al. · Proceedings of the National Academy of Sciences · 1997 · 327 citations · Full text