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DOI: 10.1126/science.3201231
OpenAccess: Closed
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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Douglas C. Wallace,Gurinder Singh,Marie T. Lott,J A Hodge,Theodore G. Schurr,Angela Maria Serena Lezza,Louis J. Elsas,Eeva Nikoskelainen

Mitochondrial DNA
Leber's hereditary optic neuropathy
Mutation
1988
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.
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    Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy” is a paper by Douglas C. Wallace Gurinder Singh Marie T. Lott J A Hodge Theodore G. Schurr Angela Maria Serena Lezza Louis J. Elsas Eeva Nikoskelainen published in 1988. It has an Open Access status of “closed”. You can read and download a PDF Full Text of this paper here.