title: POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.
authors.forename: Juliana
authors.initials: J
authors.lastname: Gurgel-Giannetti
authors.forename: Sarah Teixeira
authors.initials: ST
authors.lastname: Camargos
authors.forename: Francisco
authors.initials: F
authors.lastname: Cardoso
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D001938:Brazil; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics; D003545:Cysteine / Q000235:genetics*; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003863:Depression / Q000150:complications / Q000235:genetics; D004576:Electromyography; D005260:Female; D020233:Gait Disorders, Neurologic / Q000150:complications / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics; D010641:Phenotype; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D001120:Arginine; D013385:Succinate Dehydrogenase; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D003545:Cysteine