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

Emperador, Sonia Habbane, Mouna López-Gallardo, Ester del Rio, Alejandro Llobet, Laura Mateo, Javier Sanz-López, Ana María Fernández-García, María José Sánchez-Tocino, Hortensia Benbunan-Ferreiro, Sol Calabuig-Goena, María Narvaez-Palazón, Carlos Fernández-Vega, Beatriz González-Iglesias, Hector Urreizti, Roser Artuch, Rafael Pacheu-Grau, David Bayona-Bafaluy, Pilar Montoya, Julio Ruiz-Pesini, Eduardo Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Orphanet j. rare dis.

10.1186/s13023-024-03165-2 2024

2024