Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Authors: Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Subject Terms: Leber hereditary optic neuropathy, Mitochondrial DNA, Pathologic mutation, Large pedigree, Incomplete penetrance, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/6e3b9de78c4e4071ad94d231642e4ed6