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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...

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Detalles Bibliográficos
Autores principales:	Lenaers, Guy, Beaulieu, Cléis, Charif, Majida, Gerber, Sylvie, Kaplan, Josseline, Rozet, Jean-Michel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Update
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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