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

Horvath, J. ; Horvath, R. ; Karcagi, V. ; Komoly, S. ; Johns, D.

In: Journal of Inherited Metabolic Disease, 2002, vol. 25, no. 4, p. 323-324

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    Title
    • Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
    Author
    • Horvath, J.. Department of Neurology and Neurosciences, Geneva University Hospital, Rue Micheli-du-Crest 24, 1211, Geneva, Switzerland
    • Horvath, R.. Metabolic Disease Center Munich-Schwabing, Muenchen, Germany
    • Karcagi, V.. Department of Applied Biochemistry, Fodor Jozsef National Center for Public Health, Budapest, Hungary
    • Komoly, S.. Department of Neurology, Jahn Ferenc Hospital, Budapest, Hungary
    • Johns, D.. Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Document Type
    • Postprint
    Language
    • English
    Published in
    • Journal of Inherited Metabolic Disease, 2002, vol. 25, no. 4, p. 323-324. Kluwer Academic Publishers
    Other Version
    Classification
    • Health
    OAI-PMH Identifier
    • oai:doc.rero.ch:315793
    Summary
    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