Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
Van Goethem
Gert
G
Löfgren
Ann
A
Dermaut
Bart
B
Ceuterick
Chantal
C
Martin
Jean-Jacques
JJ
Van Broeckhoven
Christine
C
D000818:Animals; D004265:DNA Helicases; D000074002:DNA Polymerase gamma; D019915:DNA Primase / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D029721:Drosophila Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D051379:Mice; D008875:Middle Aged; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
D004272:DNA, Mitochondrial; D029721:Drosophila Proteins; D024101:Mitochondrial Proteins; D019915:DNA Primase; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; C498803:Polg protein, mouse; C513299:Twnk protein, mouse; D004265:DNA Helicases; C431576:TWNK protein, human