Late-onset Leber’s hereditary optic neuropathy: the role of environmental factors in hereditary diseases

Leber’s hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance, characterised by incomplete penetrance and variable expressivity. Typically, young male patients present with sequential, severe, rapidly progressive loss of central vision, with characteristic funduscopi...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Moura-Coelho, Nuno, Pinto Proença, Rita, Tavares Ferreira, Joana, Cunha, João Paulo
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6453429/
https://ncbi.nlm.nih.gov/pubmed/30898963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-227977
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