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Vela‐Sebastián, Ana; López‐Gallardo, Ester; Emperador, Sonia; Hernández‐Ainsa, Carmen; Pacheu‐Grau, David; Blanco, Ignacio; Ros, Andrea; Pascual‐Benito, Ester; Rabaneda‐Lombarte, Neus; Presas‐Rodríguez, Silvia; García‐Robles, Pilar; Montoya, Julio; Ruiz‐Pesini, Eduardo
Clinical genetics, October 2022, Letnik: 102, Številka: 4Journal Article
Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA‐encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.
