title: POLG mutations in Alpers syndrome.
abstract: Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
authors.affiliation: Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA.
authors.forename: K V
authors.initials: KV
authors.lastname: Nguyen
authors.forename: E
authors.initials: E
authors.lastname: Østergaard
authors.forename: S Holst
authors.initials: SH
authors.lastname: Ravn
authors.forename: T
authors.initials: T
authors.lastname: Balslev
authors.forename: E Rubaek
authors.initials: ER
authors.lastname: Danielsen
authors.forename: A
authors.initials: A
authors.lastname: Vardag
authors.forename: P J
authors.initials: PJ
authors.lastname: McKiernan
authors.forename: G
authors.initials: G
authors.lastname: Gray
authors.forename: R K
authors.initials: RK
authors.lastname: Naviaux
mesh_terms: D017668:Age of Onset; D002648:Child; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D004579:Electron Transport / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D013226:Status Epilepticus / Q000201:enzymology / Q000235:genetics
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human