The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.
Craig
Kate
K
Ferrari
Gianfrancesco
G
Tiangyou
Watcharee
W
Hudson
Gavin
G
Gellera
Cinzia
C
Zeviani
Massimo
M
Chinnery
Patrick F
PF
D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000235:genetics*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005091:Exons / Q000235:genetics; D015321:Gene Rearrangement; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics
D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human