Article
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Bioscience reports - 30 Sept 2022
Hechmi Meriem, Charif Majida, Kraoua Ichraf, Fassatoui Meriem, Dallali Hamza, Desquiret-Dumas Valerie, Bris Céline, Goudenège David, Drissi Cyrine, Galaï Saïd, Ouerhani Slah, Procaccio Vincent, Amati-Bonneau Patrizia, Abdelhak Sonia, Ben Youssef-Turki Ilhem, Lenaers Guy, Kefi Rym
Abstract excerpt
Mitochondrial cytopathies, among which the Leigh syndrome (LS), are caused by variants either in the mitochondrial or the nuclear genome, affecting the oxidative phosphorylation process. The aim of the present study consisted in defining the molecular diagnosis of a group of Tunisian patients with LS. Six children, belonging to five Tunisian families, with clinical and imaging presentations suggestive of LS were...
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