De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy

V. Biousse, [No Value] Brown, N. J. Newman, J. C. Allen, J. Rosenfeld, G. Meola, D. C. Wallace

Research output: Contribution to journalArticlepeer-review

Abstract

Monozygotic twin brothers, clinically discordant for Leber's hereditary optic neuropathy (LHON), had a heteroplasmic point mutation at position 14484 in the mitochondrial DNA that was not detected in their mother. Moreover, the mutation occurred on the rare European haplogroup X, rather than the haplogroup J commonly associated with the 14484 mutation. These data indicate that the 14484 mutation in this family was a new mutation, indicating that it was the de novo occurrence of a common, primary LHON mutation.

Original languageEnglish
Pages (from-to)1136-1138
Number of pages3
JournalNeurology
Volume49
Issue number4
Publication statusPublished - Oct 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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