Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.
Mouna HabbaneLaura LlobetM Pilar Bayona-BafaluyJosé Eulalio BarcenaLeticia CeberioCovadonga Gómez-DíazLaura GortRafael ArtuchJulio MontoyaEduardo Ruiz-PesiniPublished in: Genes (2020)
The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.