Article
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Orphanet journal of rare diseases - 6 Apr 2024
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
Abstract excerpt
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 remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify...
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