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Article

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

Journal of medical genetics - 1 Apr 1994

Oostra R J, Bolhuis P A, Wijburg F A, Zorn-Ende G, Bleeker-Wagemakers E M

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease associated with mitochondrial DNA (mtDNA) mutations. We describe the distribution of seven different mtDNA mutations and the clinical findings in 334 LHON patients belonging to 29 families. Mutations described only in LHON at nucleotide positions 11778, 3460, and 14484 were found in 15, two, and nine families respectively. In three...

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Identifiers

PMID: 8071952
DOI: 10.1136/jmg.31.4.280
PMCID: PMC1049799

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