Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients’ tissues and cybrid cell line...

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Detalles Bibliográficos
Autores principales: Habbane, Mouna, Llobet, Laura, Bayona-Bafaluy, M. Pilar, Bárcena, José E., Ceberio, Leticia, Gómez-Díaz, Covadonga, Gort, Laura, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565518/
https://www.ncbi.nlm.nih.gov/pubmed/32867169
http://dx.doi.org/10.3390/genes11091007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565518/
https://www.ncbi.nlm.nih.gov/pubmed/32867169
http://dx.doi.org/10.3390/genes11091007

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