Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
Schulte
Claudia
C
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Germany.
Synofzik
Matthis
M
Gasser
Thomas
T
Schöls
Ludger
L
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
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human