title: Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
authors.affiliation: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Schulte
authors.forename: Matthis
authors.initials: M
authors.lastname: Synofzik
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000201:enzymology / Q000235:genetics; D002648:Child; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009886:Ophthalmoplegia / Q000201:enzymology / Q000235:genetics; D010641:Phenotype; D055815:Young Adult
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human