Archives of Ophthalmology · 1993 · 122 citations · 22 references
Heteroplasmy for the 11778 mutation seems to play a role in the clinical expression of Leber's hereditary optic neuropathy and tends to progress toward homoplasmy in successive generations.
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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy
Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science · 1988 · 2.4K citations
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
Kirsi Huoponen, Johanna Vilkki, P Aula et al. · PubMed · 1991 · 393 citations