title: A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features.
abstract: BACKGROUND
  Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset.
  
  
  OBJECTIVE
  To identify the molecular defect underlying a mitochondrial encephalomyopathy.
  
  
  METHODS
  Case report of a 51year-old woman presenting with late-onset myoclonic epilepsy plus additional features. Proband's mother presented hypothyroidism and diabetes.
  
  
  RESULTS
  Muscle biopsy showed mitochondrial changes. Respiratory chain activities were reduced. The novel G5538A mutation was identified in different tissues DNAs from the proband and from her mother.
  
  
  CONCLUSIONS
  We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.
authors: Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.
authors: Edoardo
authors: E
authors: Malfatti
authors: Elena
authors: E
authors: Cardaioli
authors: Carla
authors: C
authors: Battisti
authors: Paola
authors: P
authors: Da Pozzo
authors: Alessandro
authors: A
authors: Malandrini
authors: Alessandra
authors: A
authors: Rufa
authors: Raffaele
authors: R
authors: Rocchi
authors: Antonio
authors: A
authors: Federico
mesh_terms: D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D012364:RNA, Transfer, Trp / Q000235:genetics*
chemical_list: D012364:RNA, Transfer, Trp; D003576:Electron Transport Complex IV