These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
    Author: Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.
    Journal: Ann Neurol; 2000 Jul; 48(1):102-4. PubMed ID: 10894222.
    Abstract:
    Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.
    [Abstract] [Full Text] [Related] [New Search]