Article
Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.
Human genetics - 1 Sept 1994
Oostra R J, Bolhuis P A, Zorn-Ende I, de Kok-Nazaruk M M, Bleeker-Wagemakers E M
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease of the optic nerves associated with various mitochondrial DNA (mtDNA) mutations. Four of these mutations, at nucleotide positions (np) 3460, 11778, 14484 and 15257, have been postulated to be of primary pathogenetical importance. Previously, we described the molecular and clinical findings in patients with the 11778 and 14484 mutations....
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