Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease de...

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Detalles Bibliográficos
Autores principales: Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584531/
https://www.ncbi.nlm.nih.gov/pubmed/32740724
http://dx.doi.org/10.1007/s11011-020-00605-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584531/
https://www.ncbi.nlm.nih.gov/pubmed/32740724
http://dx.doi.org/10.1007/s11011-020-00605-3

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