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Article

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Genetics - 1 Jan 1992

Brown M D, Voljavec A S, Lott M T, Torroni A, Yang C C, Wallace D C

Abstract excerpt

Four new missense mutations have been identified through restriction analysis and sequencing of the mitochondrial DNAs (mtDNA) from Leber's hereditary optic neuropathy (LHON) patients who lacked the previously identified 11778 mutation. Each altered a conserved amino acid and correlated with the LHON phenotype in population and phylogenetic analyses. The nucleotide pair (np) 13708 mutation (G to A, ND5 gene)...

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Identifiers

PMID: 1732158
DOI: 10.1093/genetics/130.1.163
PMCID: PMC1204789

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Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.PMID 1732158Read ↗

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