title: [ANT1, twinkle, POLG mutation].
authors.affiliation: Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
mesh_terms: D004265:DNA Helicases; D000074002:DNA Polymerase gamma; D019915:DNA Primase / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D000226:Mitochondrial ADP, ATP Translocases / Q000235:genetics*; D024101:Mitochondrial Proteins; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D000226:Mitochondrial ADP, ATP Translocases; D019915:DNA Primase; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D004265:DNA Helicases; C431576:TWNK protein, human