Ontology highlight
ABSTRACT:
SUBMITTER: Habbane M
PROVIDER: S-EPMC7565518 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Habbane Mouna M Llobet Laura L Bayona-Bafaluy M Pilar MP Bárcena José E JE Ceberio Leticia L Gómez-Díaz Covadonga C Gort Laura L Artuch Rafael R Montoya Julio J Ruiz-Pesini Eduardo E
Genes 20200827 9
<h4>Background</h4>Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes.<h4>Methods</h4>Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients' tissues and cybrid cell lines were performed.<h4>Results</h4>mitochondrial DNA (mtDNA) m.1555A>G/<i>MT-RNR1</i> and m.9541T>C/<i>MT-CO3</i> mutations were found. The first one is a well-known pathologic mutation. Ho ...[more]