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

Research output: Contribution to journalArticle

31 Citations (Scopus)

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

Fingerprint

Leber's Hereditary Optic Atrophy
Mitochondrial Genes
Mutation Rate
Mutation
Mitochondrial DNA
Point Mutation
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. / Mashima, Yukihiko; Hiida, Yoshiki; Oguchi, Yoshihisa; Kudo, Jun; Shimizu, Nobuyoshi.

In: Human Genetics, Vol. 92, No. 1, 08.1993, p. 101-102.

Research output: Contribution to journalArticle

Mashima, Yukihiko ; Hiida, Yoshiki ; Oguchi, Yoshihisa ; Kudo, Jun ; Shimizu, Nobuyoshi. / High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. In: Human Genetics. 1993 ; Vol. 92, No. 1. pp. 101-102.
@article{7f644e6b8393406387cbcfec9052125c,
title = "High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy",
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.",
author = "Yukihiko Mashima and Yoshiki Hiida and Yoshihisa Oguchi and Jun Kudo and Nobuyoshi Shimizu",
year = "1993",
month = "8",
doi = "10.1007/BF00216156",
language = "English",
volume = "92",
pages = "101--102",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "1",

}

TY - JOUR

T1 - High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

AU - Mashima, Yukihiko

AU - Hiida, Yoshiki

AU - Oguchi, Yoshihisa

AU - Kudo, Jun

AU - Shimizu, Nobuyoshi

PY - 1993/8

Y1 - 1993/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027326777&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027326777&partnerID=8YFLogxK

U2 - 10.1007/BF00216156

DO - 10.1007/BF00216156

M3 - Article

VL - 92

SP - 101

EP - 102

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 1

ER -