title: MELAS associated with mutations in the POLG1 gene.
authors.affiliation: Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Halle/Saale, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: S
authors.initials: S
authors.lastname: Tennant
authors.forename: A
authors.initials: A
authors.lastname: Rokicka
authors.forename: L
authors.initials: L
authors.lastname: He
authors.forename: T
authors.initials: T
authors.lastname: Kraya
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: S
authors.initials: S
authors.lastname: Zierz
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001706:Biopsy; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005188:False Negative Reactions; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000737:chemistry; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human