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    Science. 1988 Dec 9;242(4884):1427-30.

    Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

    Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK.

    Source

    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.

    Abstract

    Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.

    PMID:
    3201231
    [PubMed - indexed for MEDLINE]

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