Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

Alfredo Pontecorvi, Carla Carducci, Vincenzo Leuzzi, Massimo Scuderi, Anna Maria De Negri, Corrado Balacco Gabrieli, Italo Antonozzi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

Abstract

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.
Lingua originaleEnglish
pagine (da-a)725-727
Numero di pagine3
RivistaHuman Genetics
Volume87
Stato di pubblicazionePubblicato - 1991

Keywords

  • Adolescent
  • Adult
  • Base Sequence
  • DNA, Mitochondrial
  • Female
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Mutation
  • Optic Atrophies, Hereditary
  • Pedigree
  • Polymerase Chain Reaction

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