Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C

The mitochondrial DNA mutation m.9032T>C was previously identified in patients presenting with NARP (Neuropathy Ataxia Retinitis Pigmentosa). Their clinical features had a maternal transmission and patient’s cells showed a reduced oxidative phosphorylation capacity, elevated reactive oxygen speci...

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Detalles Bibliográficos
Autores principales: Baranowska, Emilia, Niedzwiecka, Katarzyna, Panja, Chiranjit, Charles, Camille, Dautant, Alain, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah, Kucharczyk, Roza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077503/
https://www.ncbi.nlm.nih.gov/pubmed/36434790
http://dx.doi.org/10.1093/hmg/ddac292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077503/
https://www.ncbi.nlm.nih.gov/pubmed/36434790
http://dx.doi.org/10.1093/hmg/ddac292

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