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Sequence analysis of Hungarian LHON patients not carrying the common primary mutations

  • Published:
Journal of Inherited Metabolic Disease

Abstract

We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.

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Authors and Affiliations

  1. Department of Neurology and Neurosciences, Geneva University Hospital, Rue Micheli-du-Crest 24, 1211, Geneva, Switzerland

    J. Horvath

  2. Metabolic Disease Center Munich-Schwabing, Muenchen, Germany

    R. Horvath

  3. Department of Applied Biochemistry, Fodor Jozsef National Center for Public Health, Budapest, Hungary

    V. Karcagi

  4. Department of Neurology, Jahn Ferenc Hospital, Budapest, Hungary

    S. Komoly

  5. Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA

    D. R. Johns

Authors
  1. J. Horvath
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  2. R. Horvath
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  3. V. Karcagi
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  4. S. Komoly
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  5. D. R. Johns
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Correspondence to J. Horvath.

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Horvath, J., Horvath, R., Karcagi, V. et al. Sequence analysis of Hungarian LHON patients not carrying the common primary mutations. J Inherit Metab Dis 25, 323–324 (2002). https://doi.org/10.1023/A:1016518811940

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  • DOI: https://doi.org/10.1023/A:1016518811940

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