Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
Lamantea
Eleonora
E
Zeviani
Massimo
M
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D017422:Sequence Analysis, DNA
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human