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

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...

Full description

Bibliographic Details
Main Authors: Mouna Habbane, Laura Llobet, M. Pilar Bayona-Bafaluy, José E. Bárcena, Leticia Ceberio, Covadonga Gómez-Díaz, Laura Gort, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
Leigh syndrome
hearing loss
mitochondrial DNA
ribosomal RNA
pathologic mutation
penetrance
Online Access:https://www.mdpi.com/2073-4425/11/9/1007

Internet

https://www.mdpi.com/2073-4425/11/9/1007

Similar Items