Cargando…
LHON: Mitochondrial Mutations and More
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death of retinal ganglion cells (RGCs). The primary cause of the disease is usually a mutation of the mitochondrial genome (mtDNA) causing a single amino acid exchange in o...
Autor principal: | Kirches, E |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Science Publishers Ltd
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129042/ https://www.ncbi.nlm.nih.gov/pubmed/21886454 http://dx.doi.org/10.2174/138920211794520150 |
Ejemplares similares
-
Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients
por: Zhang, A-Mei, et al.
Publicado: (2011) -
Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers
por: Bianco, Angelica, et al.
Publicado: (2018) -
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
por: Emperador, Sonia, et al.
Publicado: (2019) -
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation
por: Piotrowska-Nowak, Agnieszka, et al.
Publicado: (2020) -
Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity
por: Cruz-Bermúdez, Alberto, et al.
Publicado: (2016)