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Human Genetics

, Volume 87, Issue 6, pp 725–727 | Cite as

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

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

Summary

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.

Keywords

Internal Medicine Family Member Neuropathy Metabolic Disease Point Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Carla Carducci
    • 1
  • Vincenzo Leuzzi
    • 2
  • Massimo Scuderi
    • 1
  • Anna Maria De Negri
    • 3
  • Corrado Balacco Gabrieli
    • 3
  • Italo Antonozzi
    • 1
  • Alfredo Pontecorvi
    • 1
  1. 1.Section of Genetic and Metabolic Diseases, Department of Experimental MedicineUniversity “La Sapienza” of RomeRomeItaly
  2. 2.Institute of Child Neuropsychiatry, University “La Sapienza”RomeItaly
  3. 3.Institute of Ophthalmology, University “La Sapienza”RomeItaly

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