Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency

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

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Petri Luoma, Atle Melberg, Juha O. Rinne et al. · The Lancet · 2004 · 540 citations

Neurodegenerative Diseases, Molecular Genetic Study, Genetic Disorder +12

Phenotypic spectrum associated with mutations of the mitochondrial polymerase   gene

Rita Horváth · Brain · 2006 · 396 citations

Genetics, Molecular Biology, Pathology +16

Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

Eleonora Lamantea, Valeria Tiranti, Andreina Bordoni et al. · Annals of Neurology · 2002 · 266 citations

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

G. Van Goethem, J.J. Martin, Bart Dermaut et al. · Neuromuscular Disorders · 2003 · 244 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +10