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

Abstract Background Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The rema...

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Principais autores: 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
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-04-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Leber hereditary optic neuropathy
Mitochondrial DNA
Pathologic mutation
Large pedigree
Incomplete penetrance
Online adgang:https://doi.org/10.1186/s13023-024-03165-2
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