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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Bibliographische Detailangaben
Veröffentlicht in:BMJ Case Rep
Hauptverfasser: Moura-Coelho, Nuno, Pinto Proença, Rita, Tavares Ferreira, Joana, Cunha, João Paulo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2019
Schlagworte:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Online Zugang: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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