title: SANDO: two novel mutations in POLG1 gene.
abstract: Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene. We report a 44-year-old man with SANDO who harboured two novel mutations (P648R/R807C) in the POLG1 gene.
authors.affiliation: Hospital de Sao Joao, Neurologia, Department of Neurology, Porto, Portugal. miguelfgago@yahoo.com
authors.forename: Miguel Fernandes
authors.initials: MF
authors.lastname: Gago
authors.forename: M J
authors.initials: MJ
authors.lastname: Rosas
authors.forename: Joana
authors.initials: J
authors.lastname: Guimarães
authors.forename: Mariana
authors.initials: M
authors.lastname: Ferreira
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: Lígia
authors.initials: L
authors.lastname: Castro
authors.forename: Stirling
authors.initials: S
authors.lastname: Carpenter
mesh_terms: D000108:Acetylcarnitine / Q000627:therapeutic use; D000328:Adult; D003067:Coenzymes; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D004401:Dysarthria / Q000235:genetics; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; D000108:Acetylcarnitine; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; C024989:coenzyme Q10