Concepedia

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient

Valério Carelli, Piero Barboni, Annalisa Zacchini, Rita Mancini, L. Monari, Sabina Cevoli, Rocco Liguori, Mariachiara Sensi, E Lugaresi, Pasquale Montagna

Journal of the Neurological Sciences · 1998 · 49 citations · 19 references

DOI

Concepts

References

19

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

Paul Riordan‐Eva, M D Sanders, G.G. Govan et al. · Brain · 1995 · 483 citations

, , +17

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Antonio Torroni, M. Petrozzi, Leila D'Urbano et al. · PubMed · 1997 · 417 citations

, , +13

An ND-6 mitochondrial DNA mutation associated with leber hereditary optic neuropathy

Donald R. Johns, Michael J. Neufeld, Raymond D. Park · Biochemical and Biophysical Research Communications · 1992 · 340 citations · Full text

, , +17

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.

Antonio Torroni, Marie T. Lott, Mark Cabell et al. · PubMed · 1994 · 310 citations

, , +16

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

M.D. Brown, Alexander S. Voljavec, Marie T. Lott et al. · Genetics · 1992 · 277 citations · Full text

, , +16