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...
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 |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-08-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/9/1007 |
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