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Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome, mainly the m.3460G>A, m.11778G>A and m.14484T>C mutations in ND1, ND4 and ND6, respectively. Nonetheless, inconclusive...
Autores principales: | Lenaers, Guy, Beaulieu, Cléis, Charif, Majida, Gerber, Sylvie, Kaplan, Josseline, Rozet, Jean-Michel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393396/ https://www.ncbi.nlm.nih.gov/pubmed/37071596 http://dx.doi.org/10.1093/brain/awad131 |
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