Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.
Johansen
Krisztina K
KK
Bindoff
Laurence A
LA
Rydland
Jana
J
Aasly
Jan O
JO
D000328:Adult; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D020820:Dyskinesias / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation / Q000235:genetics*; D014202:Tremor / Q000150:complications / Q000235:genetics* / Q000473:pathology
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human