High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

Yukihiko Mashima, Yoshiki Hiida, Yoshihisa Oguchi, Jun Kudo, Nobuyoshi Shimizu

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Abstract

We have investigated the presence of a point mutation at position 11778 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Leber's hereditary optic neuropathy (LHON), and have identified the mutation in 14 (82.4%) of the 17 families. The prevalence of this mutation appears to be much higher in Japanese patients with LHON than in patients of other ethnic origins, such as Finnish, Dutch, German, and English families.

Original languageEnglish
Pages (from-to)101-102
Number of pages2
JournalHuman Genetics
Volume92
Issue number1
DOIs
Publication statusPublished - 1993 Aug

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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