Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be a major factor influencing the risk of vision loss from LHON. Mitochondrial variants, including...

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Detalles Bibliográficos
Autores principales: Mackey, David A., Ong, Jue-Sheng, MacGregor, Stuart, Whiteman, David C., Craig, Jamie E., Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Howell, Neil, Hewitt, Alex W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Matters Arising
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892764/
https://www.ncbi.nlm.nih.gov/pubmed/36565701
http://dx.doi.org/10.1016/j.ajhg.2022.11.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892764/
https://www.ncbi.nlm.nih.gov/pubmed/36565701
http://dx.doi.org/10.1016/j.ajhg.2022.11.014

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